Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies
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منابع مشابه
Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies.
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 ana...
متن کاملOesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.
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 ...
متن کاملOesophageal atresia and associated anomalies.
Of 253 infants with oesophageal atresia treated over an eight year period, 122 (48%) had a total of 213 other anomalies. Most commonly affected were the cardiovascular (61 cases, 29%), anorectal (30 cases, 14%), and genitourinary (29 cases, 14%) systems. The VATER (or VACTERL) association was present in 10% of cases, but occurred more often in patients who had oesophageal atresia without an ass...
متن کاملSpectrum of anomalies in Fanconi anaemia.
The frequency of various anomalies was compared in probands with Fanconi anaemia and their affected sibs. As probands are usually ascertained because of a 'characteristic' array of physical anomalies, the frequencies of these specific anomalies may be overestimated in probands, whereas their affected sibs may provide a more accurate estimate. The frequencies of growth retardation, skin hyperpig...
متن کاملColonic Atresia: Association with Other Anomalies
BACKGROUND Colonic atresia (CA) is a rare form of congenital intestinal atresia. Although CA may be isolated, it is more commonly reported in literature in association with other congenital anomalies. MATERIALS AND METHODS This study is a review of prospectively collected data of all the patients with colonic atresia presented to our center (Ain Shams University) during 2008 to 2016. RESULT...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1999
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.80.2.207