[Familial association of hypothalamic hamartoma and polysyndactyly]

Hypothalamic hamartomas are congenital malformations. The association between hypothalamic hamartomas and other dysplasias, including polydactyly, is known to be a neonatal lethal syndrome. We report on two patients (mother and son) with asymptomatic large hypothalamic hamartomas and polysyndactyly. The relationship of the patients suggests an autosomal dominant transmission.