[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.
Institut für Neuroradiologie, Universitätskliniken des Saarlandes, Homburg/Saar.
C
C
Kujat
J R
JR
Moringlane
M
M
Löw
W
W
Feiden
D000328:Adult; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006222:Hamartoma / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007027:Hypothalamic Diseases / Q000175:diagnosis / Q000235:genetics*; D007031:Hypothalamus / Q000002:abnormalities* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*
Familiäre Assoziation von Hypothalamushamartom und Polysyndaktylie.