Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly.
The ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome (EEC syndrome) is an autosomal dominant dysplasia syndrome, whose pleiotropic effects involve mainly ectodermal structures. The most common clinical manifestations are ectodermal dysplasia, ectrodactyly , cleft lip/palate, and tear-duct anomalies. Very rarely the ectrodactyly may be absent, and skeletal abnormalities may be subtle. We present a 44-month-old girl who had features of EEC syndrome but without the classic ectrodactyly.
Sankhyan
Naveen
N
Department of Pediatrics, Indira Gandhi Medical College. nsankhyan@rediffmail.com
Kaushal
Ram Krishan
RK
Sarin
Sandip
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D053359:Ectodermal Dysplasia 3, Anhidrotic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006312:Hearing Loss, Bilateral / Q000235:genetics; D006314:Hearing Loss, Conductive / Q000235:genetics; D006801:Humans; D035781:Siblings; D016136:Spina Bifida Occulta / Q000209:etiology; D013576:Syndactyly / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics*