Turricéphalie héréditaire, microcéphalie familiale avec lissencéphalie: Rapport de ce syndrome malformatif avec les dysraphies cérébro-médullaires

Abstract

1. (1) The authors report a family in which most of the members of the 2nd and 3rd generation showed a hereditary turricephaly (tower-skull). The cranial dysostosis is sometimes associated with harelip, high-arched palate, or with a facial hemiatrophy. One member of the 3rd generation is a severely oligophrenic. 2. (2) Two cases of syringomyelia are believed to occur in a collateral branch. 3. (3) The members of the 4th generation are the offspring of a consanguineous marriage. They show turricephaly, marked features of the status dysraphicus of Bremer (spina bifida, fusion of the vertebral bodies, dermal cleft, and club feet) as well as conspicuous neurological signs (hypotonus of the limbs, loss of postural reflexes, visual and auditory defects, and abnormal myo-acoustic responses). In 3 children there is a mierocephaly; pallor of the optic disks; a cloudy cranium, and enlargement of the cerebral ventricles suspicious of intracranial hypertension due to craniostenosis. Neuropathological study of two of the cases reveals an extensive lissencephaly. In one case a racemose angioma of the meninges is also associated with the cerebral dysplasia. The 4th child, still unverified, has no microcephaly, but there is a papilloedema. 4. (4) The familial incidence of the cranio-vertebral dysraphias, and the telencephalic dysplasia, points to a genetic origin.