Premium
Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs
Author(s) -
Bowen P.,
Armstrong H. B.
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb01547.x
Subject(s) - ectodermal dysplasia , syndactyly , medicine , ectrodactyly , hypoplasia , penetrance , microcephaly , hypodontia , anatomy , hyperpigmentation , anodontia , dermatology , biology , pediatrics , genetics , dentistry , gene , phenotype
Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.