Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity?

doi:10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

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Article

Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity?

American journal of medical genetics - 11 Dec 1996

Grebe T A, Clericuzio C

Abstract excerpt

We report on a two-generation family exhibiting dominant inheritance of complex polysyndactyly associated with hypothalamic hamartoma. These individuals have some manifestations of Pallister-Hall syndrome (PHS), but their phenotype is milder. The proposita is a 16-year-old girl with polysyndactyl...

Topics

Adolescent
Adult
Female
Fingers
Hamartoma
Hand Deformities
Humans
Hypothalamic Diseases
Male
Pedigree
Phenotype
Polydactyly
Syndactyly
Syndrome
Toes

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