Autosomal dominant isolated ('uncomplicated') microcephaly.

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). Inheritance is probably autosomal dominant, although Xlinked inheritance cannot be completely excluded because no male-to-male transmission was observed.…”

Jumping translocation in a phenotypically normal female

“…To date, only 20 families (including the present one) in whom microcephaly was transmitted as an auto-soma1 dominant trait have been reported (Hennekam et al 1992, Merlob et al 1988). There is considerable variation in the clinical phenotypic expression of autosomal dominant microcephaly: 1) slightly dysmorphic facies (six families); 2) short stature (three families); 3) mild mental retardation (four families); 4) seizure (three families); 5 ) congenital heart disease (three families); 6) lymphedema (two families) (Haslam & Smith 1979, Burton Akaboshi et al 1981, Rossi & Battilana 1982, Haslam 1982, Ramirez et al 1983, Leung 1985, Crowe & Dicke'rman 1986, Rossi et al 1987, Merlob et al 1988, Hennekam et al 1992. Neurological abnormalities such as clonus and hyperactivity were present only in two families, but there was no association with external hydrocephalus (Haslam & Smith 1979, Haslam 1982.…”

“…Neurological abnormalities such as clonus and hyperactivity were present only in two families, but there was no association with external hydrocephalus (Haslam & Smith 1979, Haslam 1982. Autosomal dominant isolated or "pure" ("uncomplicated") microcephaly has been described (Ramirez et al 1983, Rossi et al 1987, Merlob et al 1988).…”

“…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.…”

Distinctive autosomal or X‐linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face

“…Occasional families with a non-specific form of autoso-ma1 dominant microcephaly have been reported [Haslam and Smith, 1979;Merlob et al, 1988;Ramirez et al, 1983;Rossi et al, 19871. Some affected individuals have receding foreheads, prominent ears or upslanting palpebral fissures, and mild to moderate retardation.…”