Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies.
نویسنده
چکیده
Oesophageal atresia usually occurs without any genetic background. Three cases associated with Fanconi's anaemia are reported. One neonate had growth retardation and numerous malformations including oesophageal atresia and four other components of the VACTERL association. In the two others, oesophageal atresia was isolated. In patients with such malformations an early diagnosis of Fanconi's anaemia may have important genetic and therapeutic implications.
منابع مشابه
Association of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies with auricle atresia; a case report
Association of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies (VACTERL) is rare anomaly with an incidence of 1.6 per 10000 births. This condition is a combination of anomalies recognized as a hereditary entity with poor prognosis. Herein, we report VACTERL association presenting with auricle atresia. A male neonate with a birth weight of 2690 grams, head circumference 3...
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Oesophageal atresia and/or tracheo-oesophageal fistula are common malformations occurring in approximately 1 in 3500 births. In around half of cases (syndromic oesophageal atresia), there are other associated anomalies, with cardiac malformations being the most common. These may occur as part of the VACTERL association (OMIM 192350). In the remainder of cases, oesophageal atresia/tracheo-oesoph...
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Oesophageal atresia and/or tracheo-oesophageal fistula are relatively common malformations occurring in approximately 1 in 3500 births. In around half of the cases (syndromic oesophageal atresia), there are associated anomalies, with cardiac malformations being the most common. In the remainder (non-syndromic cases), oesophageal atresia/tracheo-oesophageal fistula occur in isolation. Data from ...
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Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q...
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ورودعنوان ژورنال:
- Archives of disease in childhood
دوره 78 4 شماره
صفحات -
تاریخ انتشار 1998