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1.  A New Method for Creating a Definite Philtrum by the Flipping of an Orbicularis Oris Muscle Flap in a Patient with an Indistinct Philtrum 
Archives of Plastic Surgery  2013;40(1):62-65.
The philtrum plays a key role in the appearance of the upper lip and nostril sill. Therefore, construction of the philtrum is crucial for attaining a natural appearance of the upper lip. We used a flipping myoplasty of the orbicularis oris muscle on a patient with a flat philtrum in order to effectively reconstruct the philtral dimple and column. A 35-year-old female presented to our department with the complaint of a flat upper lip. A superficial layer of the orbicularis oris muscle on the median aspect of the upper lip was vertically incised and elevated to a thickness of 2 mm. Both sides of the elevated muscle flap were then folded to the lateral sides so that the border could be sutured onto the outer portion of the orbicularis oris muscle. The patient was observed for one year postoperatively. Her philtrum deepened by 1.25 mm, with the central angle of her Cupid's bow improving from a preoperative measurement of 146° to 128° postoperatively. In a patient with an indistinct philtrum, a flipping orbicularis oris myoplasty was performed to attain a definite philtral column and a philtral dimple. Natural upper lip movement was maintained, and an aesthetically and functionally satisfactory reconstruction was achieved.
PMCID: PMC3556536  PMID: 23362482
Lip; Surgical flaps; Reconstructive surgical procedure
2.  De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 
Interstitial deletions of the long arm of chromosome 13 (13q) are related with variable phenotypes, according to the size and the location of the deleted region. The main clinical features are moderate/severe mental and growth retardation, cranio-facial dysmorphism, variable congenital defects and increased susceptibility to tumors. Here we report a 3-year-old girl carrying a de novo 13q13.3-21.32 interstitial deletion. She showed developmental delay, growth retardation and mild dysmorphism including curly hair, high forehead, short nose, thin upper lip and long philtrum. An abnormal mass was surgically removed from her liver resulting in a hemangioendothelioma. Array analysis allowed us to define a deleted region of about 27.87 Mb, which includes the RB1 gene. This is the first report of a 13q deletion associated with infantile hemangioendothelioma of the liver.
PMCID: PMC3896849  PMID: 24433316
RB1; Tumor; Hemangioendothelioma; Liver; Chromosome 13q; Deletion; Syndrome
3.  Congenital double upper lip: A case report and review of the literature 
The Saudi Dental Journal  2010;22(3):101-106.
Congenital double lip is a rare developmental anomaly which usually involves the upper lip more than the lower lip. It may occur in isolation or as a part of Ascher’s syndrome. Sometimes upper and lower double lips occur simultaneously.
The occurrence of double lip may result in facial deformity especially when the patient attempts to talk, smile or even show the teeth. It may also interfere with speech or mastication. Although surgery may be undertaken to facilitate speech and mastication, the majority of cases are operated for cosmetic reasons.
A case of congenital double upper lip, which was surgically treated after orthodontic treatment, for cosmetic reasons, is reported. The different surgical approaches to the management of double upper lip are reviewed with a note on timing of surgery in patients who have concurrent orthodontic or prosthodontic problems.
Although the majority of cases of double lip are treated by Plastic Surgeons and Oral and Maxillofacial Surgeons, it is important to make dentists aware of this condition since they may be the first clinicians to encounter patients with this abnormality.
PMCID: PMC3723296  PMID: 23960483
Double lip; Congenital; Acquired; Ascher’s syndrome; Ellipse excision; W-plasty; Central constriction; Mucous gland hyperplasia; Pars villosa; Pars glabrosa
4.  Interaction between Foxc1 and Fgf8 during Mammalian Jaw Patterning and in the Pathogenesis of Syngnathia 
PLoS Genetics  2013;9(12):e1003949.
Syngnathia (bony fusion of the upper and lower jaw) is a rare human congenital condition, with fewer than sixty cases reported in the literature. Syngnathia typically presents as part of a complex syndrome comprising widespread oral and maxillofacial anomalies, but it can also occur in isolation. Most cartilage, bone, and connective tissue of the head and face is derived from neural crest cells. Hence, congenital craniofacial anomalies are often attributed to defects in neural crest cell formation, survival, migration, or differentiation. The etiology and pathogenesis of syngnathia however remains unknown. Here, we report that Foxc1 null embryos display bony syngnathia together with defects in maxillary and mandibular structures, and agenesis of the temporomandibular joint (TMJ). In the absence of Foxc1, neural crest cell derived osteogenic patterning is affected, as osteoblasts develop ectopically in the maxillary prominence and fuse with the dentary bone. Furthermore, we observed that the craniofacial musculature is also perturbed in Foxc1 null mice, which highlights the complex tissue interactions required for proper jaw development. We present evidence that Foxc1 and Fgf8 genetically interact and that Fgf8 dosage is associated with variation in the syngnathic phenotype. Together our data demonstrates that Foxc1 – Fgf8 signaling regulates mammalian jaw patterning and provides a mechanistic basis for the pathogenesis of syngnathia. Furthermore, our work provides a framework for understanding jaw patterning and the etiology of other congenital craniofacial anomalies, including temporomandibular joint agenesis.
Author Summary
Approximately one-third of all babies born with congenital defects, exhibit malformations of the head and face. Anomalies can include cleft lip, cleft palate, and abnormal development of bones and muscles. Such defects result in significant infant mortality, as well as life-long physical and social consequences for patients. Improved repair and the development of prevention strategies requires a thorough understanding of the underlying genetic, molecular, and environmental factors that contribute to normal craniofacial development and the pathogenesis of disease. In this study, we report the first genetic model of syngnathia, a rare human craniofacial defect characterized by bony fusion of the upper and lower jaw. We discovered that Foxc1 is required for normal development of the bones and muscles of the jaw as well as the jaw joint. Our studies provide a mechanistic basis for understanding the cause of human syngnathia as well as the failure of jaw joint formation. Furthermore, our work enhances our knowledge of jaw development and may inform treatment strategies for patients with syngnathia and related craniofacial malformation conditions.
PMCID: PMC3868537  PMID: 24385915
5.  Van der Woude Syndrome with Short Review of the Literature 
Case Reports in Dentistry  2014;2014:871460.
Van der Woude syndrome (VWS) is a rare autosomal dominant condition with high penetrance and variable expression. Clinical manifestation of this autosomal dominant clefting syndrome includes bilateral midline lower lip pits, cleft lip, and cleft palate along with hypodontia. These congenital lip pits appear as a malformation in the vermilion border of the lip, with or without excretion. Discomfort caused by spontaneous or induced drainage of saliva/mucus when pressure is applied or during a meal as well as poor aesthetic match is one of the main complaints of patients with congenital lip fistula. The pits are treated by surgical resection. Dentists should be aware of the congenital lip pits as in Van der Woude syndrome because they have been reported to be associated with a variety of malformations or other congenital disorders. Here, the authors report a rare case of Van der Woude syndrome with short review of the literature.
PMCID: PMC4090536  PMID: 25050184
6.  Advanced squamous cell carcinoma involving both upper and lower lips and oral commissure with simultaneous reconstruction by local flap: a case report 
Squamous cell carcinoma is one of the most common malignant tumors of the skin and oral mucosa. However, squamous cell carcinoma involving near total upper and lower lip and oral commissure is rarely seen in the English literature. Simultaneous reconstruction of the upper and lower lips has been inconclusive and presents a challenge to the surgeon. We report such a case and outline our simultaneous reconstruction with local flaps. To the best of our knowledge this has never been reported.
Case presentation
A 73-year-old Thai woman presented with a large rapidly growing squamous cell carcinoma involving the upper lip, lower lip, left oral commissure and left cheek. En bloc resection of upper lip, lower lip, left oral commissure and buccal region was performed. Left radical neck dissection and right modified neck dissection were performed. Reconstruction of the upper lip with a left nasolabial-cheek cervicofacial rotational-advancement flap and right cheek advancement with perialar crescent flap was performed. The lower lip was reconstructed with bilateral labiomental advancement flaps.
Squamous cell carcinoma can grow rapidly and spread along the orbicularis oris muscle and across the oral commissure to the opposite lip. In advanced cancer, multimodal treatment is necessary. No gold standard in the reconstruction of both upper and lower lips has been established. We report the case of an advanced squamous cell carcinoma involving both the upper lip, lower lip, left oral commissure and buccal area and simultaneous reconstruction with local flap coverage that, to the best of our knowledge, has never been reported.
PMCID: PMC3287129  PMID: 22257635
7.  Surgical Correction of Whistle Deformity Using Cross-Muscle Flap in Secondary Cleft Lip 
Archives of Plastic Surgery  2012;39(5):470-476.
The whistle deformity is one of the common sequelae of secondary cleft lip deformities. Santos reported using a crossed-denuded flap for primary cleft lip repair to prevent a vermilion notching. The authors modified this technique to correct the whistle deformity, calling their version the cross-muscle flap.
From May 2005 to January 2011, 14 secondary unilateral cleft lip patients were treated. All suffered from a whistle deformity, which is characterized by the deficiency of the central tubercle, notching in the upper lip, and bulging on the lateral segment. The mean age of the patients was 13.8 years and the mean follow-up period was 21.8 weeks. After elevation from the lateral vermilion and medial tubercle, two muscle flaps were crossed and turned over. The authors measured the three vertical heights and compared the two height ratios before and after surgery for evaluation of the postoperative results.
None of the patients had any notable complications and the whistle deformity was corrected in all cases. The vertical height ratios at the midline on the upper lip and the affected Cupid's bow point were increased (P<0.05). The motion of the upper lip was acceptable.
A cross muscle flap is simple and it leaves a minimal scar on the lip. We were able to reconstruct the whistle deformity in secondary unilateral cleft lip patients with a single state procedure using a cross-muscle flap.
PMCID: PMC3474403  PMID: 23094241
Cleft lip; Surgical flaps; Lip
8.  Signaling Through Tgf-β type I receptor Alk5 Is Required For Upper Lip Fusion 
Mechanisms of development  2008;125(9-10):874-882.
Cleft lip with or without cleft palate is one of the most common congenital malformations in newborns. While numerous studies on secondary palatogenesis exist, data regarding normal upper lip formation and cleft lip is limited. We previously showed that conditional inactivation of Tgf-β type I receptor Alk5 in the ectomesenchyme resulted in total facial clefting. While the role of Tgf–β signaling in palatal fusion is relatively well understood, its role in upper lip fusion remains unknown. In order to investigate a role for Tgf-β signaling in upper lip formation, we used the Nes-Cre transgenic mouse line to delete the Alk5 gene in developing facial prominences. We show that Alk5/Nes-Cre mutants display incompletely penetrant unilateral or bilateral cleft lip. Increased cell death seen in the medial nasal process and the maxillary process may explain the hypoplastic maxillary process observed in mutants. The resultant reduced contact is insufficient for normal lip fusion leading to cleft lip. These mice also display retarded development of palatal shelves and die at E15. Our findings support a role for Alk5 in normal upper lip formation not previously reported.
PMCID: PMC2593738  PMID: 18586087
Tgf-β; cleft lip; Transforming growth factor-beta; Nes-Cre; development; mouse
9.  Giant epignathus with midline mandibular cleft: Insights in embryology and management 
A congenital teratoid tumor arising and protruding through the mouth is classified as epignathus or fetus in fetu. On review of literature, we found various reports of midline mandibular and lower lip cleft associated with flexion contracture of neck, midline cervical cord, but there is only one report of association with midline dermoid. We present an unusual case of midline cleft of mandible with an epignathus. A 2.3-kg male child, delivered transvaginally in the 38th gestational week, was referred to us for management of a large irregular growth hanging outside the mouth. On examination, he had a wide median cleft of the mandible with tongue adherent to the “V”-shaped defect in the area of lower lip. A midline irregular mass of size 12 × 8 × 5 cm with variegated consistency was arising in the midline from the floor of the mouth between the tongue and lower lip. X-ray and computed tomography scan showed a rounded soft tissue mass arising from the alveolus with multiple calcifications within it along with a large triangular calcification and absence of hyoid bone. The mass was excised by mobilizing the tip of tongue. Staged repair was planned for the defect in the mandible. Unfortunately, the baby succumbed postoperatively to complex congenital heart disease. Histopathology was suggestive of epignathus. We discuss hereby the embryology and current management strategies of the problem.
PMCID: PMC3591088  PMID: 23483138
Epignathus; Fetus in Fetu; Midline cleft mandible
10.  Simultaneous occurrence of hyperthyroidism and fistulizing Crohn’s disease complicated with intra-abdominal fistulas and abscess: a case report and review of the literature 
Cases Journal  2009;2:8541.
Fistula formation in patients with Crohn’s disease is a common complication during the course of the disease. Perianal and enteroenteric are the most common forms of fistulas, whereas the involvement of the upper gastrointestinal tract with gastrocolic and duodenocolic fistulas represents an extremely unusual condition. Moreover, hyperthyroidism in association with Crohn’s disease has been rarely described.
Case presentation
We present here a rare case of a 25-year-old male with simultaneous onset of hyperthyroidism and fistulizing Crohn’s disease. Crohn’s disease was complicated with intra-abdominal fistulas involving the upper gastrointestinal tract (duodenocolic, gastrocolic) and an intra-peritoneal abscess formation in the lesser sac. We describe the clinical presentation and therapeutic management of the patient including both medical treatment and surgical intervention. Despite intense medical treatment with total parenteral nutrition, antibiotics, aminosalicylates and corticosteroids the clinical course of the disease was suboptimal. Finally, the patient underwent laparotomy and right hemi-colectomy with ileo-transverse anastomosis performed, with simultaneous drainage of the abdominal abscess and primary closure of the upper gastrointestinal tract openings (gastric, duodenal and jejunal) at one stage operation. Although the surgical approach definitively cured the perforating complications of the disease (fistulas and abscess), the luminal disease in the colon remnant was still active and steroid-refractory. The subsequent successful treatment with infliximab, azathioprine and mesalazine resulted in the induction and maintenance of the disease remission. Thyrotoxicosis was successfully treated with methimazole and the hyperthyroidism has definitely subsided.
The management of intra-abdominal fistulas in Crohn’s disease is a complex issue, requiring a multi-disciplinary approach and ‘tailoring’ of the treatment to the individual patient’s needs. Probably, a sensible approach involves early surgical intervention with prior optimization of the patient’s general condition when feasible. Common autoimmune mechanisms are probably involved in thyroid dysfunction associated with Crohn’s disease. Moreover, diagnosis and treatment of coexisting thyroid disorder in patients with Crohn’s disease has a favorable impact in disease prognosis.
PMCID: PMC2769453  PMID: 19918383
11.  Chromosome 15q24 microdeletion syndrome 
Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed nasal bridge, small mouth, long smooth philtrum, and full lower lip. Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. Other less frequent findings include hearing loss, growth hormone deficiency, hernias, and obesity. Congenital malformations, while rare, can be severe and include structural brain anomalies, cardiovascular malformations, congenital diaphragmatic hernia, intestinal atresia, imperforate anus, and myelomeningocele. Karyotypes are typically normal, and the deletions were detected in these individuals by array comparative genomic hybridization (aCGH). The deletions range in size from 1.7-6.1 Mb and usually result from nonallelic homologous recombination (NAHR) between paralogous low-copy repeats (LCRs). The majority of 15q24 deletions have breakpoints that localize to one of five LCR clusters labeled LCR15q24A, -B, -C, -D, and -E. The smallest region of overlap (SRO) spans a 1.2 Mb region between LCR15q24B to LCR15q24C. There are several candidate genes within the SRO, including CYP11A1, SEMA7A, CPLX3, ARID3B, STRA6, SIN3A and CSK, that may predispose to many of the clinical features observed in individuals with 15q24 deletion syndrome. The deletion occurred as a de novo event in all of the individuals when parents were available for testing. Parental aCGH and/or FISH studies are recommended to provide accurate genetic counseling and guidance regarding prognosis, recurrence risk, and reproductive options. Management involves a multi-disciplinary approach to care with the primary care physician and clinical geneticist playing a crucial role in providing appropriate screening, surveillance, and care for individuals with this syndrome. At the time of diagnosis, individuals should receive baseline echocardiograms, audiologic, ophthalmologic, and developmental assessments. Growth and feeding should be closely monitored. Other specialists that may be involved in the care of individuals with 15q24 deletion syndrome include immunology, endocrine, orthopedics, neurology, and urology. Chromosome 15q24 microdeletion syndrome should be differentiated from other genetic syndromes, particularly velo-cardio-facial syndrome (22q11.2 deletion syndrome), Prader-Willi syndrome, and Noonan syndrome. These conditions share some phenotypic similarity to 15q24 deletion syndrome yet have characteristic features specific to each of them that allows the clinician to distinguish between them. Molecular genetic testing and/or aCGH will be able to diagnose these conditions in the majority of individuals.
Disease name and synonyms
Chromosome 15q24 deletion syndrome
15q24 deletion syndrome
15q24 microdeletion syndrome
PMCID: PMC3275445  PMID: 22216833
12.  A Case of Basal Cell Adenoma of the Upper Lip 
Case Reports in Medicine  2014;2014:795356.
Basal cell adenoma is a rare type of benign salivary gland tumor found most commonly in the parotid gland. We present a rare case of basal cell adenoma arising in the minor salivary gland of the upper lip. The patient was a 59-year-old Japanese man who visited our department in December 2012 with a chief complaint of a mass in the upper lip, which had increased in size over several years. A mobile, elastic, and relatively soft mass without tenderness was palpable in the upper lip region. The mucosa of the upper lip covering the mass was normal. Tumor extirpation was performed under local anesthesia. Histologically, the tumor had a capsule and was composed of islands of relatively uniform, monotonous cells. Immunohistochemically, the inner tumor comprised tubuloductal structures that showed strong staining for CK7, while the outer tumor showed weak staining for CK7. The outer tumor cells also stained positively for CD10 and p63. The MIB-1 (Ki-67) labeling index was extremely low. Basal cell adenoma was diagnosed based on these results. The postoperative course was uneventful 12 months after surgery and there has been no recurrence.
PMCID: PMC3970465  PMID: 24711821
13.  Upper Lip Basal Cell Carcinoma Reconstruction Based on Anatomical Characteristics Using Skin-Mucosa Double Opposing V-Y Advancement Flap 
Eplasty  2011;11:e26.
Background: Upper lip defects less than one-fourth of total upper lip length are typically closed directly, but larger defects require reconstruction. Established techniques, such as the Abbe/Estlander flap, often require multiple procedures. This report discusses a single-step method, involving a skin-mucosa double opposing V-Y advancement flap, which was utilized to reconstruct the upper lip after basal cell carcinoma extirpation. Methods: The patient is a 54-year-old woman who presented with a 2.5-cm basal cell carcinoma in the right upper lip. Two parallel V-Y flaps were designed, on “parallel” planes of the skin and mucosa, and were advanced following wedge resection of tumor and portion of the adjacent orbicularis oris muscle. Skin/mucosa flap edges were brought to create a new skin-vermilion border, which was then sutured onto existing skin-vermilion border edges. Results: The patient was evaluated 6 months after the operation, and examination showed well-healed flaps with excellent aesthetic and functional results. There was a thin, marginal scar, where reconstructed vermilion (medial) edge was sutured to native vermilion. Conclusions: It was considered that this method could reconstruct anatomical features and function of the lip precisely. It seems that within certain limits (probably between one-fourth and one-third of total upper lip length), skin-mucosa double opposing V-Y advancement flaps appear to be the preferred method for upper lip reconstruction.
PMCID: PMC3097993  PMID: 21625614
14.  Non-malignant respiratory tract fistula from the oesophagus. A lethal condition for which novel therapeutic options are emerging 
Fistulas between the oesophagus and the respiratory tract can occur as a complication to anastomotic dehiscence after oesophageal resection, without any signs of local residual tumour growth. Other causes that are, by definition, benign may rarely prevail. The traditional therapeutic approach is to divert the proximal portion of the oesophagus and transpose the conduit into the abdominal cavity. With the introduction and development of self-expandable metal stents (SEMS), new therapeutic options have emerged for these severe complications. We have evaluated our stent-based strategy for managing these life-threatening situations.
At Karolinska University Hospital, all patients admitted with an oesophago-respiratory fistula during the period 2003–2011 followed a stent-based strategy. On clinical suspicion, a prompt computed tomography scan was performed with contrast ingestion, to visualize the status of the anastomosis and the potential communications. Often an endoscopy was done to assess the oesophagus and the conduit. The respiratory tree was inspected through a concomitant bronchoscopy. The double-stent strategy presently applied meant that covered self-expandable metal stents (SEMS) were applied on the alimentary and airway sides to adequately cover the fistula orifice on both sides. The subsequent clinical course determined the ensuing therapeutic strategy.
During the study period, 17 cases with oesophago-respiratory fistulas were treated at our unit, of which 13 exhibited fistulation following an oesophageal resection due to cancer and 4 cases had a benign underlying disease. The cancer patients did not show any obvious demographic profile when it came to the cancer sub-location, histological type of cancer, or treatment with neoadjuvant chemo- and radiochemotherapy. There was an equal distribution between hand-sutured and stapled anastomoses. In 10 of the cases, the anastomoses were located in the upper right chest; the remainder in the neck, and all reconstructions were carried out by a tubulized stomach. The diagnosis of the fistula tract between the anastomotic area and the respiratory tract was attained on the 15th postoperative day (median), with a range from 5 to 24 days.
When an oesophago-respiratory fistula is diagnosed, even in a situation where no neoplastic tissue is prevailing, attempts should be made to close the fistula tract by SEMS from both directions, i.e. from the oesophageal as well as the respiratory side. By this means, a majority of these patients can be initially managed conservatively with prospects of a successful outcome, although virtually all will eventually require a single-stage resection and reconstruction.
PMCID: PMC3568802  PMID: 23184563
Oesophageal resection; Anastomotic leakage; Caustic ingestion; Postoperative complications; Postoperative morbidity; Postoperative mortality
15.  Malignant colo-duodenal fistula; case report and review of the literature 
Colo-duodenal fistula is a rare complication of malignant and inflammatory bowel disease. Cases with malignant colo-duodenal fistulae can present with symptoms from the primary, from the fistula or from metastatic disease. The fistula often results in diarrhoea and vomiting with dramatic weight loss. Upper abdominal pain is usually present as is general malaise both from the presence of the disease and from the metabolic sequelae it causes. The diarrhoea relates to colonic bacterial contamination of the upper intestines rather than to a pure mechanical effect. Vomiting may be faeculant or truly faecal and eructation foul smelling but in the case reports this 'classic' symptomatology was often absent despite a fistula being present and patent enough to allow barium through it. Occasionally patients will present with a gastro-intestinal bleed.
Case presentation
We present an unusual case of colorectal carcinoma, where a 65 year old male patient presented with diarrhoea and vomiting secondary to a malignant colo-duodenal fistula near the hepatic flexure. Adenocarcinoma was confirmed on histology from a biopsy obtained during the patient's oesophageogastroduodenoscopy, and the fistula was demonstrated in his barium enema. Staging computed tomography showed a locally advanced carcinoma of the proximal transverse colon, with a fistula to the duodenum and regional lymphadenopathy. The patient was also found to have subcutaneous metastasis. Following discussions at the multidisciplinary meeting, this patient was referred for palliation, and died within 4 months after discharge from hospital.
We present the case, discuss the management and review the literature. Colo-duodenal fistulae from colonic primaries are rare but early diagnosis may allow curative surgery. This case emphasises the importance of accurate staging and repeated clinical examination.
PMCID: PMC1698919  PMID: 17147825
16.  “Partial duplication of lower lip and hemimandible” A rare case 
Duplication of mandible and lower lip is a very rare congenital entity. We report an extremely uncommon case of Congenital Duplication of Lower lip and Mandible in a 3 year old girl, who was treated surgically in a single stage for correction of both lip and mandible. This was a commissure preserving single staged procedure. The Surgical procedure, the problems related to this anomaly and the embryology are discussed.
PMCID: PMC3580360  PMID: 23450337
Duplication; lower lip; mandible
17.  Laryngo-tracheo-oesophageal clefts 
A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of the clinical symptoms and therefore on the extent of the LC. Diagnosis is made either based on clinical manifestations or on investigations, such as endoscopy, X-ray, CT scan, performed for other conditions. Differential diagnoses include tracheo-bronchial fistula, gastro-esophageal reflux disease and neurological swallowing disorders, as well as laryngomalacia and laryngeal palsy. Prenatal diagnosis of LC has never been reported, although associated anomalies may be detected on fetal ultrasonography. Once the cleft is diagnosed, it is essential to determine its length to orient the management and treatment approach. Management involves maintenance of satisfactory ventilation, prevention of secondary pulmonary complications as a result of repeated aspirations, and adequate feeding. Endotracheal intubation may be required for respiratory distress in severe cases. Treatment requires endoscopic or external surgery to close the cleft. Surgery should be performed as early as possible to avoid complications related to aspiration and gastric reflux, except in type 0 and type 1 cases in which conservative measures must first be attempted. The prognosis is variable depending on the severity of the LC and associated malformations. Early diagnosis and appropriate treatment and management help to reduce mortality and morbidity.
PMCID: PMC3261097  PMID: 22151899
18.  Current characteristics of congenital coronary artery fistulas in adults: A decade of global experience 
World Journal of Cardiology  2011;3(8):267-277.
AIM: To describe the characteristics of coronary artery fistulas (CAFs) in adults, including donor vessels and whether termination was cameral or vascular.
METHODS: A PubMed search was performed for articles between 2000 and 2010 to describe the current characteristics of congenital CAFs in adults. A group of 304 adults was collected. Clinical data, presentations, diagnostic modalities, angiographic fistula findings and treatment strategies were gathered and analyzed. With regard to CAF origin, the subjects were tabulated into unilateral, bilateral or multilateral fistulas and compared. The group was stratified into two major subsets according to the mode of termination; coronary-cameral fistulas (CCFs) and coronary-vascular fistulas (CVFs). A comparison was made between the two subsets. Fistula-related major complications [aneurysm formation, infective endocarditis (IE), myocardial infarction (MI), rupture, pericardial effusion (PE) and tamponade] were described. Coronary artery-ventricular multiple micro-fistulas and acquired CAFs were excluded as well as anomalous origin of the coronary arteries from the pulmonary artery (PA).
RESULTS: A total of 304 adult subjects (47% male) with congenital CAFs were included. The mean age was 51.4 years (range, 18-86 years), with 20% older than 65 years of age. Dyspnea (31%), chest pain (23%) and angina pectoris (21%) were the prevalent clinical presentations. Continuous cardiac murmur was heard in 82% of the subjects. Of the applied diagnostic modalities, chest X-ray showed an abnormal shadow in 4% of the subjects. The cornerstone in establishing the diagnosis was echocardiography (68%), and conventional contrast coronary angiography (97%). However, multi-slice detector computed tomography was performed in 16%. The unilateral fistula originated from the left in 69% and from the right coronary artery in 31% of the subjects. Most patients (80%) had unilateral fistulas, 18% presented with bilateral fistulas and 2% with multilateral fistulas. Termination into the PA was reported in unilateral (44%), bilateral (73%) and multilateral (75%) fistulas. Fistulas with multiple origins (bilateral and multilateral) terminated more frequently into the PA (29%) than into other sites (10.6%) (P = 0.000). Aneurysmal formation was found in 14% of all subjects. Spontaneous rupture, PE and tamponade were reported in 2% of all subjects. In CCFs, the mean age was 46.2 years whereas in CVFs mean age was 55.6 years (P = 0.003). IE (4%) was exclusively associated with CCFs, while MI (2%) was only found in subjects with CVFs. Surgical ligation was frequently chosen for unilateral (57%), bilateral (51%) and multilateral fistulas (66%), but percutaneous therapeutic embolization (PTE) was increasingly reported (23%, 17% and 17%, respectively).
CONCLUSION: Congenital CAFs are currently detected in elderly patients. Bilateral fistulas are more frequently reported and PTE is more frequently applied as a therapeutic strategy in adults.
PMCID: PMC3163242  PMID: 21876777
Coronary artery fistulas; Congenital heart defect; Coronary angiography; Multi-detector computed tomography angiography
19.  A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea 
Korean Journal of Pediatrics  2014;57(6):292-296.
The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.
PMCID: PMC4115071  PMID: 25076975
Chromosome 1q43-q44 deletion syndrome; Chromosome 1; Multiple abnomalities; Growth failure; Psychomotor retardation
20.  Diagnosis and endoscopic treatment of esophago-bronchial fistula due to gastric heterotopy 
Heterotopic gastric mucosa patches are congenital gastrointestinal abnormalities and have been reported to occur anywhere along the gastrointestinal tract from mouth to anus. Complications of heterotopic gastric mucosa include dysphagia, upper gastrointestinal bleeding, upper esophageal ring stricture, adenocarcinoma and fistula formation. In this case report we describe the diagnosis and treatment of the first case of esophago-bronchial fistula due to heterotopic gastric mucosa in mid esophagus. A 40-year old former professional soccer player was referred to our department for treatment of an esophago-bronchial fistula. Microscopic examination of the biopsies taken from the esophageal fistula revealed the presence of gastric heterotopic mucosa. We decided to do a non-surgical therapeutic endoscopic procedure. A sclerotherapy catheter was inserted through which 1 mL of ready to use synthetic surgical glue was applied in the fistula and it closed the fistula opening with excellent results.
PMCID: PMC2999170  PMID: 21160729
Gastric heterotopy; Esophago-bronchial fistula; Ectopic gastric mucosa; Heterotopic gastric mucosa; Esophagus; Esophageal fistula therapy
21.  A rare cause of upper gastrointestinal haemorrhage: Ruptured cystic artery pseudoaneurysm with concurrent cholecystojejunal fistula☆☆☆ 
INTRODUCTION Cystic artery pseudoaneurysms and cholecystoenteric fistulae represent two rare complications of gallstone disease.
PRESENTATION OF CASE An 86 year old male presented to the emergency department with obstructive jaundice, RUQ pain and subsequent upper gastrointestinal bleeding. Upper GI endoscopy revealed bleeding from the medial wall of the second part of the duodenum and a contrast-enhanced computed tomography scan revealed a cystic artery pseudoaneurysm, concurrent cholecystojejunal fistula and gallstone ileus. This patient was successfully managed surgically with open subtotal cholecystectomy, pseudoaneurysm resection and fistula repair.
DISCUSSION To date there are very few cases describing haemobilia resulting from a bleeding cystic artery pseudoaneurysm. This report is the first to describe upper gastrointestinal bleeding as a consequence of two synchronous rare pathologies: a ruptured cystic artery pseudoaneurysm causing haemobilia and bleeding through a concurrent cholecystojejunal fistula.
CONCLUSION Through this case, we stress the importance of accurate and early diagnosis through ultra- sonography, endoscopy, and contrast-enhanced CT imaging and emphasise that haemobilia should be included in the differential diagnosis of anyone presenting with upper gastrointestinal bleeding. We have demonstrated the success of surgical management alone in the treatment of such a case, but accept that consideration of combined therapeutic approach with angiography be given in the first instance, when available and clinically indicated.
PMCID: PMC3907196  PMID: 24394852
Cystic Artery; Pseudoaneurysm; Cholecystojejunal fistula; Cholecystoenteric fistula
22.  Transpterygoid Trans-sphenoid Approach to the Lateral Extension of the Sphenoid Sinus to Repair a Spontaneous CSF Leak 
Skull Base  2006;16(4):207-212.
Objective and Importance: Cerebrospinal fluid (CSF) fistula from the middle cranial fossa into the sphenoid sinus is a rare condition. In the past, the treatment of choice has been closure via a craniotomy. Only few geriatric cases are known, which were successfully operated by endoscopic surgery. We present a further case of nontraumatic CSF fistula originating from the middle cranial fossa. A new endoscopic technique was applied. We discuss treatment options for this rare defect. Clinical Presentation: A 76-year-old patient presented with a 2-year history of rhinorrhea. High levels of β-trace protein pointed to a diagnosis of CSF fistula. The defect was located at the anterior and inferior aspect of the pterygoid recess of the left sphenoid sinus. Intervention: The patient was operated using an endoscopic trans-sphenoidal approach. After endoscopic opening of the maxillary and sphenoid sinus, a complete posterior ethmoidectomy was performed. The medial part of the pterygoid process was removed, allowing endoscopic exposure and closure of the defect. At 1-year follow-up, the CSF fistula had not recurred and the patient had no sequel from the surgical procedure. Conclusion: In selected cases, this new endoscopic partial transpterygoid approach to the middle cranial fossa is recommended for surgical repair of CSF fistula involving the lateral extension of the sphenoid sinus. To our knowledge, ours is the oldest patient with this condition successfully operated by endoscopic means at the world's most northern university hospital.
PMCID: PMC1766457  PMID: 17471320
Gerontology; cerebrospinal fluid; fistula; middle cranial fossa; endoscopic surgery
23.  Van der Woude syndrome: A review of 11 cases seen at the Lagos University Teaching Hospital 
Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits and is caused by mutations in interferon regulatory factor six gene. It is reported to be the most common syndromic cleft worldwide. Non-penetrance for the lip pit phenotype is found in at least 10% of affected individuals and those without the pits are phenocopies for non-syndromic clefting. The aim of this study is to present the phenotypic characteristic of VWS seen at the Lagos University Teaching Hospital (LUTH) cleft clinic.
Materials and Methods
A review of cases of patients with VWS that attended the cleft lip and palate clinic at the LUTH Idi-Araba, Lagos, from January 2007 to December 2012 was conducted. Data analyses included sex of affected patients, types of cleft, presence of lower lip pits and history of lower lip pits/cleft in the family.
A total of 11 cases were seen during the period (male = 4; female = 7). Age at presentation ranged between 1 week and 12 years, with majority (n = 10) less than 2 years of age. Bilateral cleft lip and palate (BCLP) was seen in six patients, isolated soft palatal cleft (n = 3) and unilateral cleft lip and alveolus (n = 1) and cleft of hard and soft palate (n = 1). Bilateral lower lips were presented in 10 out of the 11 cases. The mother of the only patient without lip pits presented with bilateral lower lip pits. No family history of cleft/lip pits was elicited in 10 other cases.
Most of the cases of VWS presented with BCLP and lower lip pits. Non-penetrance for the lip pits was seen in one out of 11 cases. Our study emphasizes the need to screen family members in all cleft cases, especially clinically diagnosed non-syndromic cases who may be VWS with no lip pits. Future studies are required to investigate the genetic causes of this syndrome in our population.
PMCID: PMC4066459  PMID: 24647295
Cleft lip; cleft palate; lip pits; Van der Woude syndrome
24.  Incidental discovery of a long standing arteriovenous fistula after thrombectomy for acute lower limb ischaemia 
Arteriovenous fistula (AVF) is the abnormal connection between an artery and vein. Congenital AVF of the popliteal artery is very rare.
89 year old lady presented with right acute lower limb ischaemia. She had unilateral chronic venous hypertensive change in the right leg. Femoral embolectomy was performed. Backflow was achieved. Arteriotomy was closed. The patient's leg continued to deteriorate. She returned to theatre. On-table angiogram showed an occluded SFA. Thrombectomy was completed. SFA was patent but no blood flowed into the distal popliteal artery. A second on table angiogram revealed AVF between popliteal artery and vein. Dissection to the posterior aspect of the knee revealed the fistula. The vein was arterialized and enlarged. The AVF was ligated. Normal distal blood flow was achieved. Retrospectively we measured the leg lengths. Right leg was 3 cm longer than the left. The right leg circumference was 7 cm greater than the left. She reported chronic venous change from a young age. She did not report any history of trauma to the limb.
Popliteal artery to popliteal vein fistula is a rare. Trauma is the most common cause of popliteal AVF. Should the condition develop before closure of the epiphyses, there may be an increase in leg measurements.
We postulate that this case of AV fistula may be congenital due to discrepancy in leg measurements and unilateral chronic venous hypertensive change. Rarely persistent remnants of the embryonic sciatic artery can lead to arteriovenous anastomoses, which may be a possible aetiology.
PMCID: PMC4275777  PMID: 25460466
Arteriovenous; Fistula; Congenital; Popliteal; Acute limb ischaemia; AVF
25.  A Case of Intractable Left Forearm Congenital Arteriovenous Fistula Ending with Amputation: Importance of New Medical Information Obtained via the Internet 
Objective: The aim of the present study was to consider the importance of medical information obtained via the Internet for difficult cases in hospitals, especially in those located in rural areas. We report here a case of congenital arteriovenous fistula (AVF) in the upper extremities.
Patient: A 30-year-old lady was transported to our hospital by ambulance due to massive bleeding in her left hand. She was seen by our current cardiovascular surgery team for the first time, although she had been diagnosed with congenital AVF of the left arm 9 years previously. Because it was asymptomatic, she was followed up by observation. During 5 years of observation, symptoms such as cyanosis, pain, and refractory ulcers gradually developed. When she was 26 years old, she was referred to a university hospital in Akita, but surgery had already been judged to be impossible. When she was 30 years old, traumatic bleeding in her left hand and hemorrhagic shock led her to be taken to our hospital by ambulance. Using the Internet, we found an institution that had treated a large number of cases of AVF. After controlling the bleeding, we referred her to that institution. However, she could not be treated without an above-elbow amputation.
Conclusion: Congenital AVF in the upper extremities is a rare vascular anomaly and has been generally accepted to be an extremely difficult disease to treat. Treatment should be started as early as possible before the presence of any symptoms. When a specialist is not available near the hospital, precise information must be found using the Internet and the patient should be referred without any delay.
PMCID: PMC4310049  PMID: 25650050
arteriovenous fistula (AVF); combined treatment; amputation; Internet

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