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- W2071899709 abstract "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 polysyndactyly of the hands and feet, short stature, and a large hypothalamic hamartoma. Her brother and father also have polysyndactyly and a hypothalamic mass on MRI scan. All three have normal appearance and intelligence, with normal pituitary function. Several other paternal relatives have polysyndactyly as well. We propose that this family may represent a clinically and perhaps genetically distinct entity from PHS, based on normal survival, normal intelligence, lack of endocrine dysfunction or facial anomalies, and few other structural malformations. Linkage analysis is in progress to determine whether this represents a benign form of PHS or a genetically separate condition. The phenotypic differences between these cases and classic PHS have important prognostic and recurrence risk implications." @default.
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- W2071899709 date "1996-12-11" @default.
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- W2071899709 title "Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: Heterogeneity or variable expressivity?" @default.
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- W2071899709 doi "https://doi.org/10.1002/(sici)1096-8628(19961211)66:2<129::aid-ajmg2>3.0.co;2-m" @default.
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