Dominantly inherited microcephaly, short stature and normal intelligence.
A large family is reported in which microcephaly and short stature is segregating as a probably autosomal dominantly inherited trait. Some affected members also show a delayed onset of puberty. No other clinical or radiological symptoms are present, and psychomotor development is normal. This short report confirms an earlier description of a similar family by Burton in 1981.
Hennekam
R C
RC
Clinical Genetics Center, Utrecht, The Netherlands.
van Rhijn
A
A
Hennekam
F A
FA
D001827:Body Height / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007360:Intelligence / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree