Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?
ABSTRACT We performed a comprehensive literature and case report review to characterize the cardiovascular malformations (CVMs) associated with Fryns syndrome (OMIM #229850), a multiple congenital anomaly/mental retardation syndrome consisting of diaphragmatic defects, significant pulmonary hypoplasia, distinctive facial appearance, distal digital hypoplasia, and numerous other external and internal anomalies. A total of 112 patients meeting diagnostic guidelines for Fryns syndrome were identified, of whom 82 met narrowly defined criteria (Group I) and 30 met broader diagnostic criteria (Group II). Twelve patients reported as having Fryns syndrome with atypical features (Group III) were also analyzed. A CVM was reported in 51% (42 of 82) of Group I patients, most commonly an atrial or ventricular septal defect (VSD) (23 of 42, 55%). Conotruncal and aortic arch CVMs were common (11 of 42, 26%), but not significantly so compared to the general population of infants to age 1 year [Ferencz et al., 1997]. Recognizing that minor septal defects associated with congenital diaphragmatic hernia (CDH) may occur in response to altered hemodynamics (instead of being a bonafide CVM), we excluded four patients reported as having hemodynamically insignificant VSDs. Following these exclusions, conotruncal CVMs were found more commonly than in the general population (11 of 38, 29%, P < or = 0.025). In Group II, 9 of 30 (30%) had a CVM with no predominant type among the small number of cases reviewed. Among the atypical Fryns syndrome patients in Group III, half (6 of 12, 50%) had a CVM; most (4 of 6, 67%) were conotruncal, in particular, type B interrupted aortic arch (3 of 4). Patients with Fryns syndrome have a high rate of CVMs, warranting thorough cardiac evaluation including echocardiogram (fetal and/or postnatal) in all patients, similar to the evaluation for other patients with diaphragmatic hernia. The possible association between conotruncal CVMs and Fryns syndrome may provide additional support for an etiologic role of genes related to neural crest cell development in the pathogenesis of Fryns syndrome and hence, congenital diaphragmatic hernia.
- SourceAvailable from: Surekha Arakeri[Show abstract] [Hide abstract]
ABSTRACT: ABSTRACT: BACKGROUND: Congenital Diaphragmatic Hernia (CDH) is an anatomical defect that permits abdominal contents inside the thoracic cavity and affects 1 in 2000 to 5000 children each year and is associated with high morbidity and mortality. CDH may be associated with other anomalies like dysmorphic features, genitourinary, musculoskeletal, cardiovascular, neurological and gastrointestinal malformations.CDH is a devastating birth defect that can occur in isolation or part of complex malformation of various syndromes. Here we report an autopsy study of CDH with Fryns syndrome. CASE PRESENTATION: An autopsy study of still born foetus born to a 35-year old, fifth gravida presented with features of CDH with left lung hypoplasia, hypoplasia of distal parts of digits of upper and lower limbs and dysmorphic features. CONCLUSION: CDH is a life threatening pathology in infants and a major cause of death due to pulmonary hypoplasia and pulmonary hypertension. An early diagnosis with increased understanding of this disease is a crucial factor for a timely approach to manage the critically ill infant and to offer potential treatment for improved outcome and substantial reduction in morbidity. KEY WORDS: Congenital diaphragmatic hernia (CDH), Fryn syndrome, pulmonary hypoplasia, Hypoplasia of digits.
- Prenatal Diagnosis 07/2014; DOI:10.1002/pd.4447 · 2.51 Impact Factor
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ABSTRACT: Intestinal duplication cysts (IDC) are uncommoncongenital malformations that couldpresent diagnostic and therapeutic challenge.They may be often mistaken as mesentericcysts, omental cyst, cystic lymphangioma etc.However, IDC are differentiated from otherintra-abdominal cystic lesions by presence ofgastrointestinal mucosal lining and smoothmuscles in their wall. We report a case of IDCmimicking as mesenteric cyst associated withatresia of ileum in a neonate presented withacute surgical emergency. Keywords: Ileal atresia, Mesenteric Cyst, Intestinal duplication cysts (IDC)