[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.
Kujat
C
C
Institut für Neuroradiologie, Universitätskliniken des Saarlandes, Homburg/Saar.
Moringlane
J R
JR
Löw
M
M
Feiden
W
W
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.