+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

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



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



American Journal of Medical Genetics 66(2): 129-137



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.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 008206981

Download citation: RISBibTeXText

PMID: 8958318

DOI: 10.1002/(sici)1096-8628(19961211)66:2<129::aid-ajmg2>3.0.co;2-m


Related references

A familial form of blounts disease tibia vara with possible autosomal dominant inheritance and variable expressivity. Acta Medica Auxologica 11(3): 157-162, 1979

The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. American Journal of Medical Genetics 24(1): 41-55, 1986

Chorea-acanthocytosis in a large French-Canadian kindred with dominant or pseudo-dominant inheritance and variable expressivity. American Journal of Human Genetics 71(4 Supplement): 263, 2002

Variable expressivity of autosomal dominant microcornea with cataract. Archives of Ophthalmology 106(4): 505-510, 1988

Variable Expressivity of Autosomal Dominant Microcornea With Cataract. Archives of Ophthalmology 106(4): 505-510, 1988

Familial splenic hypoplasia an autosomal dominant trait with variable expressivity. American Journal of Human Genetics 41(3 SUPPL): A59, 1987

An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36. American Journal of Medical Genetics 66(2): 209-215, 1996

An autosomal dominant triphalangeal thumb, polysyndactyly with variable expression in a large Indian family maps to chromosome 7q36. European Journal of Human Genetics 4(SUPPL 1): 78, 1996

Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. American Journal of Ophthalmology 93(1): 57-70, 1982

Variable expressivity of autosomal dominant open-angle glaucoma at the GLC1A locus. Investigative Ophthalmology & Visual Science 37(3): S457, 1996

Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. Journal of Clinical Endocrinology and Metabolism 60(6): 1093-1096, 1985

Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria. American Journal of Ophthalmology 89(4): 531-539, 1980

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder. Seizure 20(9): 711-712, 2012

Autosomal dominant Gillespie syndrome in 4 generations with highly variable expressivity and incomplete penetrance. American Journal of Human Genetics 65(4): A150, 1999

A Japanese pedigree of autosomal dominant congenital stationary night blindness with variable expressivity. Ophthalmic Paediatrics and Genetics 13(4): 211-217, 1992