Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).

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Title:	Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).
Author(s):	Janssens, S.; Defoort, P.; Vandenbroecke, C.; Scheffer, H. ; Mortier, G.
Publication year:	2008
Source:	Genetic Counseling, vol. 19, iss. 4, (2008), pp. 433-437
ISSN:	1015-8146
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/185736
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Subject:	DCN 2: Functional Neurogenomics IGMD 3: Genomic disorders and inherited multi-system disorders UMCN 3.3: Neurosensory disorders UMCN 5.1: Genetic defects of metabolism
Organization:	Human Genetics
Journal title:	Genetic Counseling
Volume:	vol. 19
Issue:	iss. 4
Page start:	p. 433
Page end:	p. 437
Abstract:	We report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous mutation (p.R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis.