VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality
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منابع مشابه
VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality
The acronym VACTERL describes the non-random co-occurrence of three of the following anomalies: vertebral (V), anal (A), cardiac (C), tracheoesophageal fistula with or without oesophageal atresia (TE), renal (R) and limb defects (L). Here, we report a newborn baby with VACTERL-type anomalies along with a single umbilical artery. The additional interesting findings include development dysplasia ...
متن کاملNeonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus
VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mell...
متن کاملA male pseudohermaphrodite with a dicentric Y chromosome. Autoradiographic study.
A 13-year-old male pseudohermaphrodite (mixed gonadal dysgenesis, unilateral testicular differentiation) was found to be a chromosomal mosaic of the 45, X0/46, XY type, the Y chromosome being a symmetrical dicentric chromosome. Presumed ¥ chromosomes similar to this one have been observed before, but their identification was not supported by autoradiographic data. In the present study the ident...
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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...
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ژورنال
عنوان ژورنال: Oxford Medical Case Reports
سال: 2015
ISSN: 2053-8855
DOI: 10.1093/omcr/omu062