Dominant inheritance of microcephaly, short stature and congenital dislocation of the hips.
A family showing dominant inheritance of microcephaly, short stature, congenital dislocation of the hips and dysmorphic features is described. Affected individuals have malar hypoplasia, prominent nasal root, beaked nose, short philtrum and simple ears. This facial appearance is very similar to that in the family reported by Bawle and Horton in 1989.
Newbury-Ecob
R A
RA
Department of Clinical Genetics, City Hospital, Nottingham, UK.
Young
I D
ID
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005500:Follow-Up Studies; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics*; D006618:Hip Dislocation, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree