Anodontia as the sole clinical sign of the ectrodactyly-ectodermal dysplasia-cleft lip (EEC) syndrome.
In this report we present another family with oligosymptomatic expression of the EEC syndrome. A mother with complete absence of the permanent teeth had two children with split hand/split foot deformity, as typically seen in the EEC syndrome. Cleft lip/cleft palate was also present in one of them. The great variability in expression of this autosomal dominant syndrome is discussed and the difficulties in genetic counseling are emphasized.
Chranowska
K H
KH
Department of Human Genetics, Child Health-Centre Memorial Hospital, Warsaw.
Krajewska-Walasek
M
M
Rump
Z
Z
Wisniewski
L
L
Fryns
J P
JP
D000328:Adult; D000848:Anodontia / Q000150:complications*; D002675:Child, Preschool; D002971:Cleft Lip / Q000150:complications*; D004476:Ectodermal Dysplasia / Q000150:complications*; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications; D006228:Hand Deformities, Congenital / Q000150:complications; D006801:Humans; D013577:Syndrome