POLYSYNDACTYLY AND ASYMPTOMATIC HYPOTHALAMIC HAMARTOMA IN MOTHER AND SON - A VARIANT OF PALLISTER-HALL SYNDROME

Authors
LOW M MORINGLANE JR REIF J BARBIER D BEIGE G KOLLES H KUJAT C ZANG KD HENN W
Citation
M. Low et al., POLYSYNDACTYLY AND ASYMPTOMATIC HYPOTHALAMIC HAMARTOMA IN MOTHER AND SON - A VARIANT OF PALLISTER-HALL SYNDROME, Clinical genetics, 48(4), 1995, pp. 209-212
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
48
Issue
4
Year of publication
1995
Pages
209 - 212
Database
ISI
SICI code
0009-9163(1995)48:4<209:PAAHHI>2.0.ZU;2-B
Abstract
We report on a 53-year-old woman and her 20-year-old son who both pres ented with polysyndactyly, without other external malformations or men tal retardation. MRI imaging revealed, as an incidental finding, asymp tomatic hypothalamic hamartomas in both patients. The siblings of both mother and son are unaffected. This family may represent an autosomal dominant variant of Pallister-Hail syndrome.