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1.  Copy Number Variation analysis in 98 individuals with PHACE syndrome 
PHACE syndrome is the association of large segmental facial hemangiomas and congenital anomalies, such as posterior fossa malformations, cerebral arterial anomalies, coarctation of the aorta, eye anomalies and sternal defects. To date, the reported cases of PHACE syndrome have been sporadic suggesting that PHACE may have a complex pathogenesis. We report here genomic copy number variation (CNV) analysis in 98 individuals with PHACE syndrome as a first step in deciphering a potential genetic basis of PHACE syndrome. A total of 3,772 CNVs (2,507 duplications and 1,265 deletions) were detected in 98 individuals with PHACE syndrome. CNVs were then eliminated if they failed to meet established criteria for quality, spanned centromeres or did not contain genes. CNVs were defined as “rare” if not documented in the Database of Genomic Variants. Ten rare CNVs were discovered (size range: 134–406 kb), located at 1q32.1, 1q43, 3q26.32-3q26.33, 3p11.1, 7q33, 10q24.32, 12q24.13, 17q11.2, 18p11.31, and Xq28. There were no rare CNV events that occurred in greater than one subject. Therefore, further study is needed to determine the significance of these CNVs in the pathogenesis of PHACE syndrome.
doi:10.1038/jid.2012.367
PMCID: PMC3971866  PMID: 23096700
PHACE syndrome; PHACES syndrome; Pascual-Castroviejo II syndrome; aortic arch anomaly; hemangioma; copy number variation
2.  Adult Presentation of PHACES Syndrome 
Interventional Neuroradiology  2011;17(2):137-146.
Summary
A significant percentage of children with hemangiomas may have PHACES syndrome which refers to the association of posterior fossa malformations, facial hemangiomas, arterial cerebrovascular abnormalities, cardiovascular anomalies, eye abnormalities and ventral defects like sternal clefting or supraumbilical raphe. A variety of factors have led to under diagnosis of PHACES syndrome in the past including lack of awareness and limited imaging modalities. Also, patients with PHACES syndrome with arterial cerebrovascular abnormalities can present with acute ischemic stroke. However, these patients usually present before one year of age. We describe a 29-year-old woman with no history of cerebrovascular disease who initially presented with symptoms of a stroke and was subsequently diagnosed to have PHACES syndrome exhibiting an array of multiple unusual imaging findings. We also discuss the current literature and recommendations about PHACES syndrome.
PMCID: PMC3287263  PMID: 21696650
stroke, cerebrovascular, congenital, facial hemangioma, posterior fossa, moya-moya
3.  Large destructive facial hemangioma in PHACE syndrome 
We report an infant who presented with large facial hemangioma associated with Dandy-Walker cyst and atrial septal defect. This case is peculiar in that the large facial hemangioma in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of aorta and other cardiac defects (PHACE) syndrome resulted in massive tissue destruction.
doi:10.4103/0971-9261.57704
PMCID: PMC2847136  PMID: 20376253
Facial hemangioma; infantile hemangioma; PHACE syndrome
4.  PHACE association with intracranial, oropharyngeal hemangiomas, and an atypical patent ductus arteriosus arising from the tortuous left subclavian artery in a premature infant 
Korean Journal of Pediatrics  2012;55(1):29-33.
PHACE association is a rare neurocutaneous condition in which facial hemangiomas associate with a spectrum of posterior fossa malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, and eye anomalies. We reported a case of PHACE association in a premature infant showing facial, intracranial, and oropharyngeal hemangiomas with evidence of the Dandy-Walker variant and complicated cardiovascular anomalies, including a right-sided aortic arch and an atypical patent ductus arteriosus arising from a tortuous left subclavian artery. To our knowledge, intracranial hemangiomas are rare in PHACE association, and a concomitant oropharyngeal hemangioma has not been previously reported in the PHACE association literature. In infants presenting with large, plaque-like facial hemangiomas, it is important to conduct active cardiovascular and neurological evaluations. Special attention should be given to the laryngoscopic examination to search for additional hemangiomas in the airway.
doi:10.3345/kjp.2012.55.1.29
PMCID: PMC3282216  PMID: 22359528
PHACE association; Central nervous system cavernous hemangioma; Patent ductus arteriosus; Premature infants
5.  PHACE Syndrome: Persistent Fetal Vascular Anomalies 
Interventional Neuroradiology  2006;11(4):355-361.
Summary
PHACE(S) syndrome is an acronym for neurocutaneous disease encompassing the expression of (P) posterior cranial fossa malformations, (H) facial haemangiomas, (A) arterial anomalies, (C) aortic coarctaion and other cardiac defects, (E) eye abnormalities and (S) for sternal malformation or stenotic arterial diseases. We report on a case of PHACE syndrome complete expression with persistent fetal vascular anomalies unusually in a 55-year-old women with large bilateral facial and neck haemangioma and posterior fossa circulation insufficiency.
PMCID: PMC3399752  PMID: 20584448
PHACE(S) syndrome, haemangioma, persistent fetal vascular anomalies
6.  A case of phace syndrome and acquired hypopituitarism? 
Background
PHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large “segmental” facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies.
Case vignette
We are reporting a girl with PHACE syndrome. The patient had a congenital right-sided facial hemangioma with plaque-morphology. At age 11 years and 2 months she presented with short stature, markedly decreased growth velocity and signs and symptoms suggestive of hypothyroidism. Magnetic Resonance Imaging (MRI) of the brain revealed complex structural and cerebrovascular arterial anomalies, including an empty sella. Testing of pituitary function revealed multiple pituitary dysfunctions, including absolute growth hormone deficiency, hypogonadotropic hypogonadism, central hypothyroidism, and secondary adrenal insufficiency.
Conclusions
This case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals.
doi:10.1186/1687-9856-2012-20
PMCID: PMC3408334  PMID: 22747526
PHACE syndrome; Hypopituitarism; Growth hormone deficiency; Central hypothyroidism; Neurocutaneous syndrome
7.  Candidate Locus Analysis for PHACE Syndrome 
PHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 on 7q33. In order to further analyze this region, SLC35B4 was sequenced for 33 individuals with PHACE syndrome and one parental set. Common polymorphisms with a possible haplotype but no disease causing mutation were identified. Sixteen of 33 samples of the PHACE syndrome patients were also analyzed for copy number variations using high resolution oligo-Comparative Genomic Hybridization (CGH) microarray. A second individual in this cohort had a 26.5kb deletion approximately 80kb upstream of SLC35B4 with partial deletion of the AKR1B1 on 7q33. The deletions observed on 7q33 are not likely the singular cause of PHACE syndrome; however, it is possible that this region provides a genetic susceptibility to phenotypic expression with other confounding genetic or environmental factors.
doi:10.1002/ajmg.a.35341
PMCID: PMC3356486  PMID: 22544659
PHACE Syndrome; microarray; deletion; chromosome region 7q33; SLC35B4; AKR1B1
8.  Imaging Findings of a Patient with Incomplete Phenotypical Expression of the PHACES Syndrome 
Interventional Neuroradiology  2008;14(1):97-100.
Summary
We present imaging findings of a patient with an incomplete form of the PHACES syndrome with dolichosegmental intracranial arteries as the predominant component, and discuss the etiopathological and clinical significance of this finding.
PMCID: PMC3313712  PMID: 20557791
PHACES syndrome, dolichoectasia, hemangiomas
9.  Sturge-Weber Syndrome 
Annals of Dermatology  2011;23(4):551-553.
Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome, characterized by the association of facial port-wine hemangiomas in the trigeminal nerve distribution area, with vascular malformation(s) of the brain (leptomeningeal angioma) with or without glaucoma. Herein, we reported Sturge-Weber syndrome in a 50-year-old man, who presented port-wine hemangiomas and epilepsy. In this case, the patient's epilepsy episodes from his first year of life had been ignored and separated from the entity of SWS by his physicians, which led to delayed treatment. This case illustrates the importance of careful examination of patients of any age with hemangiomas in the trigeminal nerve with concomitant episodes of epilepsy. In such cases, there should be yearly neuroimaging screenings to guaranteed early interdisciplinary interventions from the time of definite diagnosis.
doi:10.5021/ad.2011.23.4.551
PMCID: PMC3229959  PMID: 22148033
Epilepsy; Port-wine hemangioma; Sturge-weber syndrome
10.  Initiation and Use of Propranolol for Infantile Hemangioma: Report of a Consensus Conference 
Pediatrics  2013;131(1):128-140.
Infantile hemangiomas (IHs) are common neoplasms composed of proliferating endothelial-like cells. Despite the relative frequency of IH and the potential severity of complications, there are currently no uniform guidelines for treatment. Although propranolol has rapidly been adopted, there is significant uncertainty and divergence of opinion regarding safety monitoring, dose escalation, and its use in PHACE syndrome (PHACE = posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities; a cutaneous neurovascular syndrome characterized by large, segmental hemangiomas of the head and neck along with congenital anomalies of the brain, heart, eyes and/or chest wall). A consensus conference was held on December 9, 2011. The multidisciplinary team reviewed existing data on the pharmacologic properties of propranolol and all published reports pertaining to the use of propranolol in pediatric patients. Workgroups were assigned specific topics to propose protocols on the following subjects: contraindications, special populations, pretreatment evaluation, dose escalation, and monitoring. Consensus protocols were recorded during the meeting and refined after the meeting. When appropriate, protocol clarifications and revision were made and agreed upon by the group via teleconference. Because of the absence of high-quality clinical research data, evidence-based recommendations are not possible at present. However, the team agreed on a number of recommendations that arose from a review of existing evidence, including when to treat complicated IH; contraindications and pretreatment evaluation protocols; propranolol use in PHACE syndrome; formulation, target dose, and frequency of propranolol; initiation of propranolol in infants; cardiovascular monitoring; ongoing monitoring; and prevention of hypoglycemia. Where there was considerable controversy, the more conservative approach was selected. We acknowledge that the recommendations are conservative in nature and anticipate that they will be revised as more data are made available.
doi:10.1542/peds.2012-1691
PMCID: PMC3529954  PMID: 23266923
infantile hemangioma; propranolol; PHACE syndrome; hypertension; bradycardia; hypoglycemia
11.  A girl with sternal malformation/vascular dysplasia association 
Korean Journal of Pediatrics  2013;56(3):135-138.
Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth, except for a skin defect over the sternum and a supraumbilical raphe. Multiple hemangiomas appeared subsequently on her chin and upper chest wall, and respiratory distress due to subglottic hemangioma developed during the first 2 months of life. Her symptoms were controlled with oral prednisolone administration. No respiratory distress have recurred during the 3-year follow-up period.
doi:10.3345/kjp.2013.56.3.135
PMCID: PMC3611048  PMID: 23559976
Sternum; Malformation; Hemangioma
12.  Coarctation of the aorta in adults: what is the best treatment? Case report and literature review  
Journal of Medicine and Life  2011;4(2):189-195.
Coarctation of the aorta is a congenital cardiac malformation that can go undiagnosed until old age with only hypertension as a marker of its presence because clinical signs can be subtle and overlooked if a complete physical exam is not performed.
We report the case of a 45 year–old women, diagnosed with severe coarctation of the aorta just distal to the left subclavian artery, with poststenotic dilatation of the descending aorta and difficult control of blood pressure values. The patient was successfully treated interventionally, by balloon angioplasty with deployment of a covered stent.
We review here the different methods employed for the treatment of coarctation of the aorta in adults, including surgical or percutaneous balloon angioplasty with or without stent placement, underlying their complications and the factors that influence the choice of the best coarctation repair method.
PMCID: PMC3124275  PMID: 21776305
aortic coarctation; balloon angioplasty; covered stent; surgery
13.  Blue rubber bleb nevus syndrome 
Canadian Journal of Surgery  1996;39(1):59-62.
Blue rubber bleb nevus syndrome, an uncommon condition, is manifested by gastrointestinal and skin hemangiomas and gastrointestinal hemorrhage causing anemia. The authors report a unique case of the syndrome in association with a congenital cardiac malformation. A 26-year-old woman presented with iron-deficiency anemia after the birth of her first child. She had a history of skin and gastrointestinal hemangiomas and tetralogy of Fallot. Endoscopy revealed multiple new intestinal hemangiomas, which were removed through enterotomies with resolution of the anemia. Iron therapy was prescribed, and her condition was stable at follow-up 5 years later.
PMCID: PMC3895129  PMID: 8599795
14.  Repair of Coarctation-Related Aortic Arch Aneurysm and Ventricular Septal Defect in an Adolescent 
Texas Heart Institute Journal  2008;35(4):466-469.
A saccular aortic arch aneurysm that is secondary to aortic arch coarctation and that is accompanied by a ventricular septal defect is a rare combination in the adolescent patient. Total simultaneous repair of all of these conditions is desirable, because of the higher morbidity and mortality rates of staged procedures—particularly when resection of the saccular aneurysm is delayed.
Herein, we discuss the case of a 16-year-old boy who underwent simultaneous surgical correction of these malformations. With the aid of cardiopulmonary bypass on the beating heart, the coarctation and the aneurysmal segment were resected, and a tubular Dacron graft was interposed. The ascending aorta and femoral artery were both then cannulated to ensure whole-body perfusion during cardiopulmonary bypass. The ventricular septal defect was closed with the patient under cardioplegic arrest. After 10 days, he was discharged from the hospital without sequelae. We conclude that single-staged repair of cardiac abnormalities and of an aortic arch aneurysm that is secondary to coarctation of the aortic arch can be performed safely and effectively in adolescent and adult patients by use of our technique.
PMCID: PMC2607102  PMID: 19156244
Aorta/surgery; aortic aneurysm/physiopathology/surgery/ultrasonography; aortic coarctation/complications/physiopathology/surgery/ultrasonography; coronary disease/surgery; magnetic resonance angiography; methods; time factors
15.  Coarctation of the aorta in Kabuki syndrome. 
Archives of Disease in Childhood  1994;70(6):512-514.
The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 30%. To date, no specific type of heart malformation is known to be associated with the syndrome. A further 20 unselected children with Kabuki syndrome are presented. The incidence of heart abnormalities in these children is almost twice that previously reported (55%) and juxta-ductal coarctation occurs with a frequency of 25%.
Images
PMCID: PMC1029872  PMID: 8048822
16.  DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. 
British Heart Journal  1991;66(4):308-312.
DiGeorge syndrome was diagnosed in an infant who had an interrupted aortic arch, hypoparathyroidism, and low T lymphocyte numbers. Two siblings had heart defects that are not commonly described in DiGeorge syndrome (a membranous ventricular septal defect and coarctation of the aorta respectively). These siblings did not have evidence of thymic dysfunction or hypoparathyroidism. Chromosome analysis showed that the mother, whose cardiovascular examination was normal, and her three offspring with heart defects had a 22q11 interstitial deletion, which was confirmed by molecular analysis. This family suggests that 22q11 deletions can cause apparently isolated heart defects and that the range of these defects may be wider than previously recognised. Once the genes that are deleted in this family are characterised they will be useful candidate genes in the investigation of isolated cardiac malformations.
Images
PMCID: PMC1024729  PMID: 1747284
17.  Coarctation of aorta with special reference to infants. Long-term results of operation in 126 cases. 
British Heart Journal  1977;39(11):1246-1253.
A review of 126 cases of coarctation of the aorta confirms the need for surgical resection in infants with intractable congestive cardiac failure. The high association with additional cardiovascular abnormalities in patients presenting in early infancy contributes significantly to the mortality. Patients with large ventricular septal defects and coarctation of the aorta are at risk and may require pulmonary artery banding at the time of resection of the aortic coarctation. Long-term complications included restenosis (18 cases) and persistent hypertension (10 cases). In order to prevent persistent hypertension, it is suggested that elective resection of the coarctation be done at 1 year of age.
PMCID: PMC483403  PMID: 588380
18.  Infantile Perianal Pyramidal Protrusion with Coexisting Perineal and Perianal Hemangiomas: A Fortuitous Association or Incomplete PELVIS Syndrome? 
Indian Journal of Dermatology  2014;59(1):71-74.
Two cases of infantile perianal pyramidal protrusions (IPPP), one pyramidal in shape and one leaf shaped, are being described by us. Both were notable for coexisting hemangiomas in the close vicinity. To the best of our knowledge we are reporting these two variants of IPPP with the associated neighboring hemangiomas for the first time in Indian dermatologic literature. We suggest that this presentation may be a part of one of the syndromes that comprise anorectal malformations with hemangiomas like PELVIS syndrome and others mentioned in the table.
doi:10.4103/0019-5154.123503
PMCID: PMC3884932  PMID: 24470664
Hemangioma; infantile perianal pyramidal protrusion; PELVIS syndrome
19.  Two stage hybrid approach for complex aortic coarctation repair 
Background
Management of an adult patient with aortic coarctation and an associated cardiac pathology poses a great surgical challenge since there are no standard guidelines for the therapy of such complex pathology. Debate exists not only on which lesion should be corrected first, but also upon the type and timing of the procedure. Surgery can be one- or two-staged. Both of these strategies are accomplice with elevate morbidity and mortality.
Case report
In the face of such an extended surgical approach, balloon dilatation seems preferable for treatment of severe aortic coarctation.
We present an adult male patient with aortic coarctation combined with ascending aorta aneurysm and concomitant aortic valve regurgitation. The aortic coarctation was corrected first, using percutaneous balloon dilatation; and in a second stage the aortic regurgitation and ascending aorta aneurysm was treated by Bentall procedure. The patients' postoperative period was uneventful. Three years after the operation he continues to do well.
doi:10.1186/1749-8090-4-10
PMCID: PMC2652448  PMID: 19239693
20.  Coarctation Repair in Children With Turner's Syndrome 
Texas Heart Institute Journal  1982;9(1):49-52.
Ravelo recently reported the results of surgical repair of coarctation of the aorta in eight patients with Turner's syndrome.* Three of these patients had serious hemorrhagic complications. At Texas Children's Hospital, we have operated on four patients with Turner's syndrome and coarctation of the aorta without complications. Of the 12 patients in both series, nine patients had uncomplicated courses when they had Dacron aortoplasty (4/12) or end-to-end anastomosis (5/12). The three other patients with end-to-end anastomoses had significant perioperative hemorrhage. Whereas Ravelo reported serious complications in 38% (3/8), the combined series suggest that only about 25% (3/12) of patients with Turner's syndrome undergoing repair of coarctation of the aorta may experience significant perioperative hemorrhage. We conclude, as did Ravelo, that attention to technical details should keep surgical morbidity in these patients to a minimum.
PMCID: PMC341471  PMID: 15226811
21.  Klippel-Trenaunay syndrome with gastrointestinal bleeding, splenic hemangiomas and left inferior vena cava 
Klippel-Trenaunay syndrome is a congenital vascular anomaly characterized by a triad of varicose veins, cutaneous capillary malformation, and hypertrophy of bone and (or) soft tissue. Gastrointestinal vascular malformations in Klippel-Trenaunay syndrome may present with gastrointestinal bleeding. The majority of patients with spleenic hemangiomatosis and/or left inferior vena cava are asymptomatic. We herein report a case admitted to the gastroenterology clinic with life-threatening hematochezia and symptomatic iron deficiency anemia. Due to the asymptomatic mild intermittent hematochezia, splenic hemangiomas and left inferior vena cava, the patient did not seek any help for gastrointestinal bleeding until his admittance to our department for evaluation of massive gastrointestinal bleeding. He was referred to angiography because of his serious pathogenetic condition and inefficiency of medical therapy. The method showed that hemostasis was successfully achieved in the hemorrhage site by embolism of corresponding vessels. Further endoscopy revealed vascular malformations starting from the stomach to the descending colon. On the other hand, computed tomography revealed splenic hemangiomas and left inferior vena cava. To the best of our knowledge, this is the first Klippel-Trenaunay syndrome case presenting with gastrointestinal bleeding, splenic hemangiomas and left inferior vena cava. The literature on the evaluation and management of this case is reviewed.
doi:10.3748/wjg.v16.i12.1548
PMCID: PMC2846266  PMID: 20333801
Klippel-Trenaunay syndrome; Gastrointestinal bleeding; Splenic hemangiomas; Left inferior vena cava
22.  Coarctation of aorta with right aortic arch. Report of surgical correction in 2 cases: one with associated anomalous origin of left circumflex coronary artery from the right pulmonary artery. 
British Heart Journal  1975;37(9):937-945.
Two patients with right aortic arch, anomalous left subclavian artery, and coarctation of theaorta, have been operations for the relief of coarctation, successful in one but only partially successful in the other: in one case, a 'dacron' patch was inserted into the narrowed segment, but a mild recurrence of coarctation was found a year later; in the other, the proximal segment of the anomalous left subclavian artery was used for the repair, with complete relief of the coarctation, both immediately and at late follow-up. The first case had multiple associated congenital abnormalities, including anomalous origin of the left circumflex coronary artery from the right pulmonary artery, which was also corrected surgically: this anomaly has only been recorded once hitherto. The second had facial haemangiomata and a small ventricular septal defect. Four previously reported cases of coarctation and right arch are reviewed. These 6 cases are considered in the light of current views on the development and classification of aortic arch anomalies.
Images
PMCID: PMC482901  PMID: 127600
23.  Coarctation of the aorta with right aortic arch. A rare case and atypical clinical picture. 
Texas Heart Institute Journal  1998;25(3):212-215.
We report the case of a 13-year-old girl with a diffusely hypoplastic right aortic arch, anomalous origin of the left subclavian artery, and a small, insignificant ventricular septal defect. The patient's pulse was forceful at the carotid arteries, but it was markedly weaker at all extremities. Catheterization revealed that both common carotid arteries arose from the dilated ascending aorta; the right subclavian and vertebral arteries arose from the hypoplastic posterior segment of the aortic arch, and the left subclavian artery arose from the normally developed descending aorta. The pressure gradient between the ascending and descending aorta was 80 mmHg. A bypass grafting procedure was performed to connect the ascending and the upper abdominal aorta. No pressure gradient remained after the operation, nor was a gradient detected during 2 years of follow-up. The origin of both subclavian arteries distal to the area of coarctation resulted in an atypical clinical picture and delayed diagnosis. Ten previously reported cases of coarctation of the aorta with right aortic arch are reviewed.
Images
PMCID: PMC325552  PMID: 9782563
24.  Aborting a Malformed Fetus: A Debatable Issue in Saudi Arabia 
Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocentesis) and biophysical (ultrasound 2-D, 3-D and 4-D, ultrasonography with Doppler, etc.). Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. A debate regarding aborting a malformed fetus still exists among the senior Islamic scholars in many of the Islamic countries. The progressive interpretations of Islam have resulted in laws allowing for early abortion on request in two countries; six others permit abortion on health grounds and three more also allow abortion in cases of rape or fetal impairment. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective.
doi:10.4103/2249-4847.92231
PMCID: PMC3761984  PMID: 24027674
Abortion; congenital anomalies; congenital malformations; fetus; newborn infants
25.  Pentalogy of Cantrell: A Report of Three Cases 
Pentalogy of Cantrell is a rare upper midline syndrome that may present in association with anomalies outside the torso. The pentad — the supraumbilical body wall defect, sternal defect, deficiency of the anterior diaphragm, defect of the diaphragmatic pericardium, and the intracardiac anomalies — was first described by Cantrell et al., in 1958. The defect is said to be more common in males, and survival is dependent on the cardiac malformations and on the degree of completeness of the syndrome. We report three cases of Cantrell's pentalogy managed in our unit. Two of the patients were females and one a male. All were seen at peripheral health centers before being referred to us. Age at presentation for the girls was 18 hours and 36 hours, respectively, the boy presented at the age of six weeks. All of their parents were unschooled manual workers. All patients presented with a defect in the supraumbilical body wall, bifid sternum, and a visible cardiac impulse. We were unable to do echocardiography to rule out intracardiac anomalies in the three patients. The thin membranous covering of the epigastrium in the female patients was managed conservatively. Both female patients were discharged against medical advice as requested by their parents, due to financial constraints. The male patient was lost to follow up after two clinic visits. A multidisciplinary approach to the management of this syndrome is recommended.
doi:10.4103/2006-8808.63717
PMCID: PMC3214484  PMID: 22091325
Pattern; pentalogy of cantrell; sternal defect

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