Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).
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.
Janssens
S
S
Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium. Sandra.janssens@ugent.be
Defoort
P
P
Vandenbroecke
C
C
Scheffer
H
H
Mortier
G
G
D000025:Abortion, Eugenic; D002971:Cleft Lip / Q000000981:diagnostic imaging / Q000235:genetics*; D002972:Cleft Palate / Q000000981:diagnostic imaging / Q000235:genetics*; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006580:Genetic Carrier Screening; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011535:Prune Belly Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D016216:Ultrasonography, Prenatal
C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins