title: Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome.
abstract: We report on a 53-year-old woman and her 20-year-old son who both presented with polysndactyly, without other external malformations or mental retardation. MRI imaging revealed, as an incidental finding, asymptomatic hypothalamic hamartomas in both patients. The siblings of both mother and son are unaffected. This family may represent an autosomal dominant variant of Pallister-Hall syndrome.
authors.affiliation: Institute of Human Genetics, Saarland University, Homburg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Löw
authors.forename: J R
authors.initials: JR
authors.lastname: Moringlane
authors.forename: J
authors.initials: J
authors.lastname: Reif
authors.forename: D
authors.initials: D
authors.lastname: Barbier
authors.forename: G
authors.initials: G
authors.lastname: Beige
authors.forename: H
authors.initials: H
authors.lastname: Kolles
authors.forename: C
authors.initials: C
authors.lastname: Kujat
authors.forename: K D
authors.initials: KD
authors.lastname: Zang
authors.forename: W
authors.initials: W
authors.lastname: Henn
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D005260:Female; D006222:Hamartoma / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007027:Hypothalamic Diseases / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011859:Radiography; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome