POLYSYNDACTYLY, GELASTIC SEIZURES, HYPOTHALAMIC HAMARTOMA AND PRECOCIOUS PUBERTY - A VARIANT OF PALLISTER-HALL SYNDROME

Authors
OLIVEIRA MD MORAES JT BAREA LM PASKULIN GA
Citation
Md. Oliveira et al., POLYSYNDACTYLY, GELASTIC SEIZURES, HYPOTHALAMIC HAMARTOMA AND PRECOCIOUS PUBERTY - A VARIANT OF PALLISTER-HALL SYNDROME, Brazilian journal of genetics, 19(2), 1996, pp. 339-342
Citations number
19
Categorie Soggetti
Genetics & Heredity
Journal title
Brazilian journal of genetics
ISSN journal
01008455 → ACNP
Volume
19
Issue
2
Year of publication
1996
Pages
339 - 342
Database
ISI
SICI code
0100-8455(1996)19:2<339:PGSHHA>2.0.ZU;2-L
Abstract
A girl with polysyndactyly presented gelastic seizures during the neon atal period. Magnetic resonance examination at two years of age reveal ed a hypothalamic lesion suggestive of a hamartoma. Pubic hair appeare d soon after. These characteristics suggest that this is a variant of the Pallister-Hail syndrome. A conservative therapeutic course was cho sen despite the poor response to anticonvulsants.