New case of an EEC-like syndrome in twins.
A patient wrongly referred as a possible victim of thalidomide showed the three classical cardinal features of the EEC syndrome, plus severe mental retardation, an unusual finding in this condition. His twin brother was similarly affected, and died at four months of age due to complications caused by the malformations. Their normal parents were first cousins. The concordance of the manifestation in the twins and the parents' consanguinity suggest that they had the recessive form of the EEC syndrome.
Schmidt
M
M
Biology Institute, State University of Rio de Janeiro, Brazil.
Salzano
F M
FM
D000328:Adult; D002971:Cleft Lip; D002972:Cleft Palate; D004200:Diseases in Twins; D004476:Ectodermal Dysplasia; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging