Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.
The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. One of these is the presence of genitourinary anomalies, some of which cause significant morbidity. This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood. We go on to review the literature on the diagnosis and management of genitourinary malformations in EEC syndrome.
aManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre bDepartment of Burns and Plastic Surgery, Royal Manchester Children's Hospital, Central Manchester NHS Foundation Trust cDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester dDepartment of Paediatrics, Royal Preston Hospital, East Lancashire Teaching Hospitals Trust, Preston, UK.
Zerin
Z
Hyder
Victoria
V
Beale
Ruth
R
O'Connor
Jill
J
Clayton-Smith
D002675:Child, Preschool; D002971:Cleft Lip / Q000175:diagnosis* / Q000235:genetics; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D014157:Transcription Factors / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics; D014564:Urogenital Abnormalities / Q000175:diagnosis* / Q000235:genetics
C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins