Dominant inheritance of microcephaly with short stature

Abstract

A family is reported in which microcephaly has been observed in at least three generations. The pedigree is most consistent with autosomal dominant inheritance. In addition to microcephaly, affected individuals exhibit significantly short stature, ocular anomalies and simple, protruding ears. Intellectual function is in the normal or borderline range.

Dominantly inherited microcephaly, short stature and normal intelligence

“…The features in the present family are very similar to those in the family reported by Burton (1981). They piobably represent the same entity, that may be distinct from autosomal dominant microcephaly (Merlob et al 1988;MIM 156580), as was suggested by McKusick (1990).…”

“…To date, less than 20 families have been reported in which autosomal dominantly inherited microcephaly is segregating. The combination microcephalyshort stature -normal intellectual function without other important features has been described only once (Burton 1981). This author reported on a family in which affected members showed microcephaly, short stature, and normal or borderline intelligence.…”

Syndrome of microcephaly, deafness/ malformed ears, mental retardation and peculiar facies in a mother and son

“…Most of the reported genetic forms of microcephaly are inherited in an autosomal recessive fashion (McKusick 1983). However, since Haslam & Smith (1979) reported the first cases of an autosomal dominant microcephaly, additional cases have been reported (Burton 1981, Tenconi et al 1981, Haslam 1982, Rossi & Battilana 1982, Ramirez et al 1983, Tenconi et al 1983, Leung 1985. An X-linked recessive microcephaly was reported by Warkany et al (1961).…”

Jumping translocation in a phenotypically normal female

“…scribed four families with an autosomal dominant microcephaly, fewer than 20 families in whom microcephaly was transmitted as an autosomal dominant trait have been reported (Haslam & Smith 1979, Hennekam et al 1992. Neurological abnormalities including mild mental retardation, seizure, and hyperactivity are seen in some patients with autosomal dominant microcephaly (Haslam & Smith 1979, Burton 1981, Haslam 1982, Merlob et al 1988). However, we found no documentation of benign external hydrocephalus in association with autosomal dominant microcephaly.…”