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Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister‐Hall syndrome
Author(s) -
Löw M.,
Moringlane J. R.,
Reif J.,
Barbier D.,
Beige G.,
Kolles H.,
Kujat C.,
Zang K. D.,
Henn W.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb04090.x
Subject(s) - hypothalamic hamartoma , asymptomatic , hamartoma , polydactyly , medicine , pediatrics , pathology , endocrinology , anatomy , precocious puberty , hormone
We report on a 53‐year‐old woman and her 20‐year‐old son who both presented with polysyndactyly, 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.