Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome

被引:7
|
作者
Hyder, Zerin [1 ]
Beale, Victoria [2 ]
O'Connor, Ruth [4 ]
Clayton-Smith, Jill [1 ,3 ]
机构
[1] Univ Manchester, Manchester Ctr Genom Med, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England
[2] Univ Manchester, Dept Burns & Plast Surg, Royal Manchester Childrens Hosp, Cent Manchester NHS Fdn Trust, Manchester, Lancs, England
[3] Univ Manchester, Sch Biol Sci, Div Evolut & Genom Sci, Manchester, Lancs, England
[4] East Lancashire Teaching Hosp Trust, Royal Preston Hosp, Dept Paediat, Preston, Lancs, England
关键词
ectodermal dysplasia and cleft lip; palate; genitourinary; renal tract; urinary tract; GENOTYPE-PHENOTYPE CORRELATION; EEC-SYNDROME; LIP-PALATE; P63; GENE; MUTATIONS; ANOMALIES;
D O I
10.1097/MCD.0000000000000172
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:78 / 82
页数:5
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