Poland's syndrome is a rare congenital anomaly consisting of unilateral partial or total absence of a breast and/or pectoralis major muscle, and ipsilateral symbrachydactyly. Many structural and functional abnormalities have been described in association with the syndrome. However, only a few hemostatic disorders have been reported. The case of a 12-year-old secondary school girl with unilateral hypoplasia of the breast, absence of anterior axillary fold and absence of the pectoralis major muscle is hereby presented. She also had thrombocytopenia and several episodes of spontaneous bleeding from the ipsilateral anterior chest wall. She did well on medical treatment, with no recurrence of bleeding 10 months after treatment. The author is not aware of any previously reported case of Poland's syndrome associated with bleeding disorder in Africa. This case is presented to alert clinicians of its existence and possible association with hematological disorders.
Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies. Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with congenital bilateral vocal fold immobility. To our knowldge, this is the first report of such an association between Poland-Mobius syndrome and congenital bilateral vocal fold immobility.
Poland's syndrome is a rare congenital non-inherited anomaly that usually manifests itself during adolescence and is characterized by absence or deficient development of one of the breasts. To our knowledge, no case of breastfeeding after reconstruction surgery in patients with Poland's syndrome has been described.
A 22-year-old female patient with Poland's syndrome underwent breast reconstruction. The procedure performed consisted of rotation of a myocutaneous flap harvested from the ipsilateral latissimus dorsi muscle, which was subsequently attached to the anterior thoracic wall to create a pouch and place a 300-ml round textured cohesive silicone gel-filled breast implant. 5 years later the patient got pregnant, and 1 year after delivery she is still breastfeeding normally with both breasts.
Reconstruction surgery with the latissimus dorsi muscle and a prosthesis was shown to be a potential and safe solution to achieve improvement of breast symmetry and to provide confidence and comfort in relation to self-image and, moreover, the ability to breastfeed.
Poland's syndrome; Mammoplasty; Prostheses; Implants; Breastfeeding
In this paper, we report a case of a 14-year-old girl with congenital aplasia of the flexor pollicis longus tendon who had no other associated anomalies of thumb hypoplasia and no trauma history. Flexor pollicis longus tendon anomalies are rare; several types of this congenital anomaly have been reported in the literature. The diagnosis should be considered if a patient is unable to flex the interphalangeal joint of the thumb. A hypoplastic thumb or an absent interphalangeal joint crease may be a diagnostic feature in such cases. Besides physical examination, we also used direct radiography and magnetic resonance imaging to diagnose this rare congenital anomaly in our patient.
Hand; Thumb hypoplasia; Flexor pollicis longus tendon aplasia
Poland syndrome is a congenital disorder related to chest and hand anomalies on one side of the body. Its etiology remains unclear, with an ipsilateral vascular alteration (of unknown origin) to the subclavian artery in early embryogenesis being the currently accepted theory. Cavernous malformations are vascular hamartomas, which have been linked to a genetic etiology, particularly in familial cases, which commonly present with multiple lesions. Our case report is the first to describe multiple cavernous malformations associated with Poland syndrome, further supporting the vascular etiology theory, but pointing to a genetic rather than a mechanistic factor disrupting blood flow in the corresponding vessels.
A 41-year-old Caucasian man with Poland syndrome on the right side of his body presented to our hospital with a secondary generalized seizure and was found to have multiple cavernous malformations distributed in his brain, cerebellum, and brain stem, with a predominance of lesions in the left hemisphere.
The distribution of cavernous malformations in the left hemisphere and the right-sided Poland syndrome in our patient could not be explained by a mechanistic disruption of one of the subclavian arteries. A genetic alteration, as in familial cavernous malformations, would be a more appropriate etiologic diagnosis of Poland syndrome in our patient. Further genetic and pathological studies of the involved blood vessels in patients with Poland syndrome could lead to a better understanding of the disease.
We describe here a very rare congenital deformity that involves the splitting of the right upper limb with the superior limb articulating with the shoulder joint, and the inferior limb laterally attached to the chest wall.
Material and Methods:
The child with this rare split limb was treated by transferring the inferior limb on an islanded pedicle to the superior one while creating the hand.
A unified limb was reconstructed while creating the hand without any compromise on the existing function and vascularity. The patient is on regular follow-up and further staged procedures have been planned to provide a better functional and aesthetic limb.
The congenital deformity described here has not been mentioned in world literature so far and its embryological basis is a matter of discussion. Opinions regarding further management of this anomaly are invited from experts in the field.
Complete splitting of upper limb; complete cleft upper limb; very rare congenital deformity
The acronym CHARGE refers to a non‐random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown.
We studied a series of 10 antenatal cases in whom the diagnosis of CHARGE syndrome was suspected, considering that a careful pathological description would shed light on the CHD7 function during development. CHD7 sequence analysis and in situ hybridisation were employed.
The diagnosis of CHARGE syndrome was confirmed in all 10 fetuses by the identification of a CHD7 heterozygous truncating mutation. Interestingly, arhinencephaly and semi‐circular canal agenesis were two constant features which are not included in formal diagnostic criteria so far. In situ hybridisation analysis of the CHD7 gene during early human development emphasised the role of CHD7 in the development of the central nervous system, internal ear, and neural crest of pharyngeal arches, and more generally showed a good correlation between specific CHD7 expression pattern and the developmental anomalies observed in CHARGE syndrome.
These results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction.
CHD7 gene; development; gene expression pattern; human embryogenesis
Congenital absence of the pericardium is a rare cardiac condition, which can be either isolated or associated with other cardiac and extracardiac anomalies. There are six different types, depending on the severity of the involvement. Most of the patients with this defect are asymptomatic, especially the ones with complete absence of the pericardium. However, some patients are symptomatic, reporting symptoms that include chest pain, palpitations, dyspnea, and syncope. Diagnosis is established by the characteristic features on chest X-ray, echocardiogram, chest computed tomography (CT), and/or cardiac magnetic resonance imging (MRI). We present here a case of a 23 year-old-male, who presented to our hospital with complaints of pleuritic chest pain and exertional dyspnea, of a two-week duration. He was physically active and his past history was otherwise insignificant. His chest CT with contrast was interpreted as showing evidence of multiple emboli, predominantly in the left lung, and he was started on a heparin and warfarin therapy. A repeat chest CT with contrast three weeks later showed no significant change from the previous CT scan. Both scans showed that the heart was abnormally rotated to the left side of the chest. An echocardiogram raised the suspicion of congenital absence of the pericardium, with a posteriorly displaced heart. In retrospect, motion artifact on the left lung, attributed to cardiac pulsations and the lack of pericardium, resulted in a CT chest appearance, mimicking findings of pulmonary embolism. The misdiagnosis of pulmonary embolism was attributed to the artifact caused by excessive cardiac motion artifact on the chest CT scan. In non-gated CT angiograms, excessive motion causes an artifact that blurs the pulmonary vessels, reminiscent of a ′seagull′ or a ′boomerang′. Physicians need to be aware of this phenomenon, as well as the characteristic radiological features of this congenital anomaly, to enable them to make a correct diagnosis.
Cardiology; congenital anomaly; radiology
Sternal cleft is a chest wall malformation that can expose mediastinal viscera and vessels to injuries. It can be classified into two forms, complete and partial. Its etiology and incidence are unknown and it is often associated with other defects. The aim of this article is to review the literature and report our experience with this rare anomaly, focusing on clinical presentation and management. We reviewed the English written literature about sternal cleft and collected the clinical data of all the published series. We present seven new cases that we have observed and treated since 1999. Literature reports 51 series including 86 patients, more frequently female (62%) and affected with partial superior form (67%). Sternal cleft is often asymptomatic (74%) and associated with other defects (72%). Surgical treatments include primary closure (73%), bone graft interposition (10%), prosthetic closure (7%), and muscle flap interposition (3%). In our series, primary closure was possible in four cases, while in three cases we placed a prosthesis. Five patients had associated defects and two were affected with PHACES (posterior fossa abnormalities, hemangiomas, arterial lesions, cardiac abnormalities/aortic coarctation, abnormalities of the eye, and sternum defects) syndrome. We report for the first time the association of sternal cleft with connectival nevi in three of our patients. At follow-up, we observed no major complication or recurrences. Although primary closure is the preferred option and should be performed in the neonatal period, the use of prostheses warrants good results as well. Prior to treatment, associated defects and syndromes should be excluded.
Congenital sternal cleft; Sternum abnormalities; Chest wall malformations; Musculoskeletal abnormalities
Developmental dental anomalies are marked deviations from the normal colour, contour, size, number, and the degree of the development of teeth. Local as well as systemic factors may be responsible for these developmental disturbances. Such influences may begin before or after birth and hence the deciduous or the permanent teeth may be affected. These anomalies not only affect the aesthetic appearance of the teeth but also pose difficulties during the dental treatment and sometimes are the cause of dental problems.
A rare case of dental developmental fusion of the permanent right lateral incisor with two supernumerary teeth, with dens invagination, dilacerations, talon’s cusp and a periradicular lesion reported to the Department of Oral Medicine and Radiology, NHDC.
The clinical and the radiographical findings led to the diagnosis of fusion of the permanent lateral incisor with two supplementary teeth. All the 3 involved teeth showed dens invaginatus, dilacerations of the roots and a talons cusp with a chronic periapical lesion.
The rarity with which this entity appears, along with its complex characteristics, often makes it difficult to treat. A multidisciplinary approach, with different specialists working together, can contribute to the success of a treatment plan.
Fusion; Supernumerary; Dens invaginatus; Talon’s cusp; Dilacerations
Duplication of vas deferens is a very rare congenital anomaly with only a few cases reported in the literature. Injury to vas deferens is a recognized complication during hernia surgery and the possibilities of injury may increase with lack of awareness of this anomaly.
A-31-year old gentleman with unilateral duplication of vas deferens that was diagnosed during right sided open hernia surgery is reported. The patient had undergone surgery for left inguinal hernia one year previously at the same center and no such anomaly was detected. During intra-operative examination of scrotum, the testes and epididymis were found to be normal. Patient had an uneventful recovery from hernia surgery.
Unilateral duplication of vas deferens is rare. The identification of this anomaly is essential in order to minimize the incidence of injury to vas during hernia surgery. This case reinforces the importance of routine identification of vas deferens and awareness about this anomaly during inguinal hernia surgery.
We present two cases of rachipagus in two male infants and review the literature on this anomaly. These infants were from consanguineous marriages and cases of twins were reported in their families. In the first case it was a limb attached to the lower lumbar region with a rudimentary posterior arch. At the junction there was a lipomeningocele. Anatomical dissection of the limb identified the bones of the lower limb. In the second case, the parasites were joints of the upper limb that were attached to the chest by rudimentary posterior arches. In both cases there was only one spinal canal and a single spinal cord. Except the spina bifida in the first case no other malformation was diagnosed. The parasites were successfully excised. The two patients are well at one year of follow-up. Rachipagus is a rare embryogenic malformation with a good prognosis in the absence of associated congenital anomalies.
Niger Republic; parasitic twins; rachipagus; siamese
Hemianomalous pulmonary venous drainage with intact atrial septum is a rare congenital anomaly and reports of its surgical repair and the long-term complications related to the correction are only infrequently encountered in the literature. We report the case of a patient with hemianomalous pulmonary venous drainage and intact atrial septum who underwent surgical repair using a pericardial baffle and creation of an “atrial septal defect” aged 15 years. Dyspnoea and recurrent chest infections started 7 months after surgery when he was seen by a respiratory physician without cardiac followup. He presented again aged 28 years with a recurrent pneumonia investigated over 6 weeks and heart pronounced normal from examination and echocardiography. Correct diagnosis was made in Grown Up Congenital Heart (GUCH) clinic stimulating review of data and catheterisation with pulmonary artery angiography which confirmed it. We feel that this case highlights the importance of specialist care and followup for GUCH patients.
Persistent left superior vena cava (PLSVC) and left hepatic vein drainage into the coronary sinus is a very rare combination of thoracic venous anomalies. A literature search revealed only two previously reported cases. PLSVC is associated with congenital heart disease and impulse conduction abnormalities. Subaortic valve stenosis is among these abnormalities. We present an extremely rare case of a 19-year-old woman who presented with PLSVC and left hepatic vein drainage into the coronary sinus associated with subaortic valve stenosis. The vascular anomalies were noted on a computed tomography angiogram of the chest performed for a history of shortness of breath. The patient had been previously diagnosed with and underwent treatment for subaortic valve stenosis at ages 2 and 8. PLSVC increases the incidence of congenital heart disease.
Persistent left superior vena cava; left hepatic vein; subaortic valve stenosis; enlarged coronary sinus; left ventricular outflow tract obstruction
Congenital midline cervical cleft (CMCC) is a rare developmental anomaly of the anterior neck, mostly found in Caucasian females. Most authors consider it within the spectrum of branchial arch developmental abnormalities. There have been about 100 reported cases in the literature. However, there is no agreement on the age of surgery in this anomaly.
In this report we present our experience of managing this anomaly in the early neonatal period in two neonates. One of them had concomitantly congenital heart disease.
It is important to recognize this rare congenital anomaly in neonate. Although the exact time of surgery for CMCC is not mentioned, based on our results the earliest time of intervention is recommended since then the operating result will be excellent.
Congenital Anomaly; Branchial Arch; Midline Cervical Cleft
Split right coronary artery is a rare congenital anomaly. Most cases originate from the same orifice in the right sinus of Valsalva. The correct diagnosis of split right coronary artery with separate ostia is believed to be extremely rare. The true incidence of this anomaly is unknown. The main problem in diagnosis is that another ostium might be missed on selective coronary angiography. The use of multidetector computed tomography has been emphasized in the diagnosis of the anomaly. Two cases of patients with a split coronary artery arising from two separate ostia are reported; the cases were both detected by conventional coronary angiography. To avoid missing the diagnosis of this rare anomaly by conventional coronary angiography, the possibility should be kept in mind and a Judkins catheter technique may be helpful.
Conventional coronary angiography; Separate ostia; Simultaneous; Split coronary artery
The Poland anomaly is usually a non-genetic malformation syndrome. This paper reports two second cousins who both had a typical left sided Poland anomaly, and this constitutes the first recorded case of this condition affecting more than one member of a family. Despite this, for the purposes of genetic counselling, the Poland anomaly can be regarded as a sporadic condition with an extremely low recurrence risk.
Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.
The ribs are essential structures of the osseous thorax that provide certain significant information and aid interpretation of radiologic images in daily routine practice. Intrathoracic rib is a rare congenital anomaly that is usually discovered incidentally, but may cause in vain interventions in case of being unaware. We herein report an intrathoracic rib in a girl whose chest X-ray was strange enough to obtain a spiral computed tomography (CT) scanning for a definitive diagnosis afterwards.
Congenital Abnormalities; Tomography, Spiral Computed; Child
Background: Unilateral pulmonary artery agenesis (UPAA) is a rare congenital anomaly due to a malformation of the sixth aortic arch of the affected side during embryogenesis. The diagnosis is usually set at adolescence, however it can remain asymptomatic and late diagnosis is possible.
Description: We present a case series of three female patients, aged 18, 49 and 68 years old, with history of recurrent respiratory tract infections, to whom the diagnosis of UPAA was set. They were admitted, due to hemoptysis and productive cough (case 1) or progressive dyspnea on exertion (cases 2 and 3). Chest X-ray was abnormal in all three cases, depicting shift of the mediastinal structures to the left and hypoplasia of the left lung while chest CT demonstrated absence of the left pulmonary artery.
Conclusion: UPAA can remain asymptomatic and diagnosis in adult age is possible, usually after an abnormal chest radiograph. A number of additional imaging techniques are available to aid the diagnosis. Physicians should consider the possibility of undiagnosed UPAA in adults.
Unilateral pulmonary artery agenesis; bronchiectasis; hemoptysis
Hypoplasia of the internal carotid artery (HICA) is a rare congenital anomaly caused by an incomplete development of the organ, and only a few cases are reported in the literature. The prevalence of HICA (including agenesia and aplasia) is estimated to about 0.01%.
We describe a case of a 66-year-old man with hearing loss on the left side and no other symptoms or signs related to vascular impairment. HICA was discovered incidentally by color duplex sonography of the extracranial cerebral vessel and confirmed by magnetic resonance imaging angiography (angio MRI) and computed tomography (CT) of the head.
Compensatory flow allows HICA patients to remain asymptomatic, but complications may occur. The pathways of the collateral circulation in association with aplasia or HICA are described. A differential diagnosis was made on the basis of ultrasonographic (US) detection of diffuse luminal narrowing of the internal carotid artery (ICA). Recognition of this disease has important clinical implications.
Arteries, abnormalities; Hypoplasia internal carotid artery; Extracranial duplex sonography; Transcranial duplex sonography
Esophageal duplication cysts are congenital anomalies of the foregut that are rarely found in the abdomen. An accurate preoperative diagnosis is not always possible, so the definitive diagnosis can be made by histologic examination of the surgical specimen. We experienced a case of Intra-abdominal esophageal duplication cyst in a 52-year-old female, who initially presented with an esophageal submucosal tumor on upper gastrointestinal endoscopy. She did not have any gastrointestinal symptoms. Barium esophagography, chest computed tomography scan and endoscopic ultrasonography demonstrated the cystic lesion in the intra-abdominal esophagus. Transhiatal enucleation of the lesion was performed successfully via the abdominal approach with no postoperative complications. Histologic study showed that the cyst wall contained a two-layered muscle coat and the surface of the lumen was lined by pseudo-ciliated columnar epithelium. The patient has been doing well without any complaints for 3 months of follow-up period.
Esophageal duplication cyst; intraabdominal
Duplication of the lower urinary tract is a very rare congenital anomaly which is diagnosed either at birth or during early childhood. These rare malformations are most of the times accompanied by other concomitant anomalies and are therefore diagnosed immediately after birth. In some even rarer cases there are no concomitant anomalies and symptoms thus leading to a diagnosis later in childhood. This is the first case in the literature of complete bladder duplication in the coronal plane with concomitant duplication of the urethra and no other associated anomalies in a 52-year-old male who remained asymptomatic and therefore undiagnosed for more than 5 decades.
Aqueductal stenosis may be caused by a number of etiologies including congenital stenosis, tumor, inflammation, and, very rarely, vascular malformation. However, aqueductal stenosis caused by a developmental venous anomaly presenting as congenital hydrocephalus is even more rare, and, to the best of our knowledge, has not yet been reported in the literature. In this study, we review the literature and report the first case of congenital hydrocephalus associated with aqueductal stenosis from a developmental venous anomaly.
The patient is a three-day-old, African-American baby girl with a prenatal diagnosis of hydrocephalus. She presented with a full fontanelle, splayed sutures, and macrocephaly. Postnatal magnetic resonance imaging showed triventricular hydrocephalus, suggesting aqueductal stenosis. Examination of the T1-weighted sagittal magnetic resonance imaging enhanced with gadolinium revealed a developmental venous anomaly passing through the orifice of the aqueduct. We treated the patient with a ventriculoperitoneal shunt.
Ten cases of aqueductal stenosis due to venous lesions have been reported and, although these venous angiomas and developmental venous anomalies are usually considered congenital lesions, all 10 cases became symptomatic as older children and adults. Our case is the first in which aqueductal stenosis caused by a developmental venous anomaly presents as congenital hydrocephalus. We hope adding to the literature will improve understanding of this very uncommon cause of hydrocephalus and, therefore, will aid in treatment.
We report a case of a 42-year-old male with symptomatic choledochocele and incidental pancreas divisum diagnosed with magnetic resonance cholangiopan- creatography (MRCP). Small choledochocele is rare congenital malformation associated with non-specific symptoms and a delay in diagnosis. The coexistence of choledochocele and pancreas divisum is extremely rare with only two case reports published in literature. In both cases MRCP failed to diagnose any biliary or pancreatic abnormality. This case suggests that the patients with recurrent abdominal pain and pancreas divisum should not be presumed to be suffering from pancreatitis. Careful evaluated for additional anomalies in the biliary tree should be sought for refractory symptoms. MRCP is a useful one-stop-shop for diagnosing pancreatic and biliary ductal anomalies.
Choledochocele; Pancreas divisum; Magnetic resonance cholangiopan-creatography; Pancreatic and biliary ductal anomalies; Pancreatitis