Dominantly inherited syndrome of microcephaly and cleft palate

Abstract

Two sisters and their mother had a syndrome of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild mental retardation, and abnormal dermatoglyphics. This is an evidently dominantly inherited trait, either autosomal or X-linked.

Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging

“…The inheritance pattern in our family is consistent with an autosomal dominant gene, as initially reported by Haslam and Smith (1979). This type of microcephaly has been associated with other abnormalities such as cleft palate, lymphedema, chorio-retinal dysplasia, short stature, and hypoplasia and aplasia of the phalanges and clinodactyly (Halal, 1983;Leung, 1985;Alzial et al, 1988;Burton, 1981; S l y et LII., 1975). Autosomal dominant microcephaly, in contrast to its recessive counterpart, has been reported to be associated with a less severe degree of mental retard.ation (Rossi and Battilana, 1982;Rossi et al, 1987).…”

Dominantly inherited microcephaly, short stature and normal intelligence

“…Autosomal dominant microcephaly has also been reported together with cleft palate (Say et a]. 1975, Halal 1983), craniosynostosis (Hunter et al 1977, holoprosencephaly (Martin et al 1977, Hennekam et al 1991, Rieger anomaly (De Hauwere et al 1973), chorio-retinal dysplasia (Tenconi et a]. 1981, Young et al 1987), oesophageal and duodenal atresia (Brunner & Winter 1991), arthrogryposis (Hall et al 1982), and pterygia (Schrander-Stumpel 1988).…”