Autosomal Dominant Microcephaly Without Mental Retardation

Chorioretinopathy and Microcephaly with Normal Development

“…There have also been other reports of both autosomal recessive and autosomal dominant microcephaly without mental retardation, but no ocular abnormalities were reported. 13,14 Negative prenatal TORCH serologies rule out common congenital infectious etiologies of chorioretinopathy and microcephaly although our patient did have a positive combined HSV 1/2 IgG at seven months. HSV transmission can occur congenitally, natally, or post-natally.…”

Dominantly inherited microcephaly, hypotelorism and normal intelligence

“…Syndromes involving microcephaly have been shown to have eye anomalies; notably retinal pigmentation (Alzial et al 1980), lymphoedema (Leung 1985), small stature (Burton 1988) and peculiar facies (Vivarelli et al 1988). The presence of normal intelligence despite severe microcephaly (standard deviation -3.5 or smaller) has also been shown in family studies, without the presence of other features (Rossi et al 1987).…”

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

“…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). Average intelligence has been .reported by other investigators.…”