Related Experiment Video
Updated: Aug 1, 2026

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
The Cohen syndrome: report of a case
1Department of Pediatrics, University of the Ryukyus School of Medicine, 207 Uehara, Nishihara, Okinawa 903-01, Japan.
Abstract:
We report on a sporadic case satisfied with a proposed diagnostic criteria for Cohen syndrome. This 10 year-old Japanese boy had truncal obesity, short stature, mild mental retardation, hypotonia, maxillary hypoplasia, micrognathia, narrow hands and feet, high-arched palate, prominent upper central incisors, high nasal bridge, but no pigmentary retinopathy. Autosomal recessive manner of inheritance was suggested by the pedigree.
Related Concept Videos
Sex-linked Disorders
Case Studies
Factors Affecting Illness
For instance, risk factors are connected to illness, disability,...
Aneurysm II: Clinical Manifestations and Diagnostic Studies
Cushing Syndrome I: Introduction
Cushing Syndrome II: Pathophysiology
