[Hereditary microcephaly with autosomal dominant chorioretinal dysplasia (author's transl)].

Within the heterogeneous group of microcephalies, a syndrome can be defined characterized by microcephaly, mental retardation, and chorioretinal dysplasia, often also with microphtalmia and embryonic remnants such as persistance of the primitive vitreum. Although this condition is usually considered autosomal recessive, the authors report a family observation consistent with dominant transmission.

["True" microcephaly with dominant-inheritance chorioretinal dysplasia].

Within the heterogeneous group of microcephalies, a syndrome can be defined characterized by microcephaly, mental retardation, and chorioretinal dysplasia, often also with microphtalmia and embryonic remnants such as persistance of the primitive vitreum. Although this condition is usually considered autosomal recessive, the authors report a family observation consistent with dominant transmission.

Ocular abnormalities of true microcephaly.

'True' microcephaly is associated with extremely varied ocular abnormalities, the most frequent being squint and optic atrophy. Within the heterogeneous group of the microcephalies it seems we can isolate a syndrome consisting of microcephaly, mental retardation, chorioretinal dysplasia and sometimes microphthalmia and embryological remnants such as persistence of the primary vitreous or persistence of its minor forms. Genetic transmission of such anomalies is generally considered to be autosomal recessive.