["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.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D012160:Retina / Q000002:abnormalities*
Microcéphalie "vraie" avec dysplasie chorio-rétinienne à hérédité dominante.