Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).
Publication year
2008Source
Genetic Counseling, 19, 4, (2008), pp. 433-437ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Human Genetics
Journal title
Genetic Counseling
Volume
vol. 19
Issue
iss. 4
Page start
p. 433
Page end
p. 437
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 metabolismAbstract
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.
This item appears in the following Collection(s)
- Academic publications [202802]
- Faculty of Medical Sciences [80020]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.