THE COHEN-SYNDROME - REPORT OF A CASE

Citation
K. Naritomi et Y. Chinen, THE COHEN-SYNDROME - REPORT OF A CASE, JPN J HUM G, 42(3), 1997, pp. 457-459
Citations number
6
Categorie Soggetti
Genetics & Heredity
ISSN journal
09168478
Volume
42
Issue
3
Year of publication
1997
Pages
457 - 459
Database
ISI
SICI code
0916-8478(1997)42:3<457:TC-ROA>2.0.ZU;2-W
Abstract
We report on a sporadic case satisfied with a proposed diagnostic crit eria for Cohen syndrome. This 10 year-old Japanese boy had truncal obe sity, short stature, mild mental retardation, hypotonia, maxillary hyp oplasia, micrognathia, narrow hands and feet, high-arched palate, prom inent upper central incisors, high nasal bridge, but no pigmentary ret inopathy. Autosomal recessive manner of inheritance was suggested by t he pedigree.