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Dominantly inherited microcephaly, short stature and normal intelligence
Author(s) -
Hannekam Raoul C. M.,
Rhijn Aat,
Hannekam F. A. M.
Publication year - 1992
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.1399-0004.1992.tb03675.x
Subject(s) - microcephaly , short stature , psychomotor learning , psychomotor retardation , genetics , pediatrics , endocrinology , medicine , biology , neuroscience , pathology , cognition , alternative medicine
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.