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The Cohen syndrome.
J Genet Hum. 1981 Dec; 29(4):449-53.JG

Abstract

A 9.5-year old severely mentally retarded boy is reported with the typical features of the Cohen syndrome. It is emphasized that this syndrome be differentiated from other constitutional syndromes featuring mental retardation, obesity short stature and hypotonia, because of a different genetic prognosis. Compared to the Prader-Labhart-Willi syndrome the craniofacial appearance of this autosomal recessively inherited malformation syndrome is characterised by antimongoloid position of the eyes, dental anomalies with prominent upper incisors and malocclusion, and high-arched palate. Ocular anomalies mostly include pigmentary retinal anomalies. Whereas hypotonia is severe from the beginning, obesity becomes only striking after the age of 5 years.

Authors

Fryns JP
No affiliation info available
Van den Berghe H
No affiliation info available

MeSH

Abnormalities, MultipleDiagnosis, DifferentialFollow-Up StudiesHumansInfant, NewbornIntellectual DisabilityMaleSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7328419

Citation

Fryns, J P., and H Van den Berghe. "The Cohen Syndrome." Journal De Genetique Humaine, vol. 29, no. 4, 1981, pp. 449-53.
Fryns JP, Van den Berghe H. The Cohen syndrome. J Genet Hum. 1981;29(4):449-53.
Fryns, J. P., & Van den Berghe, H. (1981). The Cohen syndrome. Journal De Genetique Humaine, 29(4), 449-53.
Fryns JP, Van den Berghe H. The Cohen Syndrome. J Genet Hum. 1981;29(4):449-53. PubMed PMID: 7328419.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Cohen syndrome. AU - Fryns,J P, AU - Van den Berghe,H, PY - 1981/12/1/pubmed PY - 1981/12/1/medline PY - 1981/12/1/entrez SP - 449 EP - 53 JF - Journal de genetique humaine JO - J Genet Hum VL - 29 IS - 4 N2 - A 9.5-year old severely mentally retarded boy is reported with the typical features of the Cohen syndrome. It is emphasized that this syndrome be differentiated from other constitutional syndromes featuring mental retardation, obesity short stature and hypotonia, because of a different genetic prognosis. Compared to the Prader-Labhart-Willi syndrome the craniofacial appearance of this autosomal recessively inherited malformation syndrome is characterised by antimongoloid position of the eyes, dental anomalies with prominent upper incisors and malocclusion, and high-arched palate. Ocular anomalies mostly include pigmentary retinal anomalies. Whereas hypotonia is severe from the beginning, obesity becomes only striking after the age of 5 years. SN - 0021-7743 UR - https://www.unboundmedicine.com/medline/citation/7328419/The_Cohen_syndrome_ L2 - http://www.diseaseinfosearch.org/result/1715 DB - PRIME DP - Unbound Medicine ER -