EEC syndrome and genitourinary anomalies: an update.
We report on a large family with the ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome. The clinical manifestations in this family show great variability. Specific genitourinary anomalies were found. The propositus with micturition problems is discussed in detail. A dysplastic bladder epithelium might be the cause of these problems. A remarkable improvement of the complaints was achieved upon treatment with synthetic sulfonated glycosaminoglycans.
Maas
S M
SM
Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
de Jong
T P
TP
Buss
P
P
Hennekam
R C
RC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital; D006025:Glycosaminoglycans / Q000627:therapeutic use; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy; D001743:Urinary Bladder / Q000002:abnormalities / Q000473:pathology*; D014555:Urination Disorders / Q000188:drug therapy / Q000235:genetics*
D006025:Glycosaminoglycans