Cohen syndrome: Further delineation and inheritance
Article first published online: 2 JUN 2005
Copyright © 1981 Wiley-Liss, Inc., A Wiley Company
American Journal of Medical Genetics
Volume 9, Issue 1, pages 25–30, 1981
How to Cite
Kousseff, B. G. and Opitz, J. M. (1981), Cohen syndrome: Further delineation and inheritance. Am. J. Med. Genet., 9: 25–30. doi: 10.1002/ajmg.1320090106
- Issue published online: 2 JUN 2005
- Article first published online: 2 JUN 2005
- Manuscript Revised: 12 DEC 1980
- Manuscript Received: 18 AUG 1980
- Cohen syndrome;
- autosomal recessive inheritance;
- multiple congential anomalies/mental retardation (MCA/MR) syndrome;
Four sibs, 2 males and 2 females, were found to have the Cohen syndrome. All had moderate mental retardation, microcephaly, hypotonia, and narrow hands and feet with elongated fingers and toes; 3 were short of stature (2.0–3.5 SD below the mean) with weight between 10th and 50th centile and truncal obesity. Most of the facial characteristics of the syndrome were present: exotropia, prominent ears, short philtrum, and high nasal bridge. Each manifestation varied in severity from one sib to the other. The younger girl also had rheumatoid arthritis. Mild delay of puberty was described in 3 of the sibs. However, one of them has delivered a male infant with normal appearance whose psychomotor development has been normal (as of 9 months). No endocrine problems were documented in the sibship. All patients had normal chromosomes.
The data on this sibship support the hypothesis of autosomal recessive inheritance of the Cohen syndrome. Microcephaly and short stature should be stressed as frequent manifestations of the syndrome. The variable expressivity, even among sibs, may be responsible for the paucity of reports on the mildest froms of the Cohen syndrome.