Abstract
Three patients with features of the Cohen Syndrome are reported. Main facial features are prominent nasal bridge, short philtrum, prominent upper central incisors, and retrogenia. There is microcephaly and short stature. Truncal obesity appears in mid childhood. Mental retardation seems to be severe. There is marked variability among the as yet reported cases. The best diagnostic criteria seem to be the typical face and mental retardation. As yet 3 affected sibs, offspring of healthy, non consanguineous parents are reported, as well as 8 sporadic cases. The condition seems inherited as auto-somal recessive. The variability of this condition is discussed.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Balestrazzi P, Corrini L, Villani G, Bolla MP, Casa F, Bernasconi S (1980) The Cohen syndrome: clinical and endocrinological studies of two new cases. J Med Genet 17:430–432
Carey JC, Hall BD (1978) Confirmation of the Cohen syndrome. J Pediatr 93:239–244
Cohen MM, Hall BD, Smith DW, Graham CB, Lampert KJ (1973) A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr 83:280–284
Kousseff BG (1981) Cohen syndrome: Further delineation and inheritance. Am J Med Genet 9:25–30
Sack J, Friedman E (1980) Cardiac involvement in the Cohen syndrome: A case report. Clin Genet 17:317–319
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Goecke, T., Majewski, F., Kauther, K.D. et al. Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen Syndrome). Eur J Pediatr 138, 338–340 (1982). https://doi.org/10.1007/BF00442512
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00442512