Familial association of hypothalamic hamartoma and polysyndactyly
Kujat, C.; Moringlane, J.R.; Löw, M.; Feiden, W.
Der Radiologe 34(11): 662-665
1994
ISSN/ISBN: 0033-832X PMID: 7846278 Document Number: 437875
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.