Abstract
This report concerns two new cases of the Cohen syndrome and gives further information on the variable phenotypical pattern of the disease. The frequency of major and minor clinical signs is reviewed from all the published reports. Among the minor signs we found previously undescribed skeletal abnormalities in one of our patients. The reported delay onset of puberty, which appears to be a frequent aspect of the syndrome, seems to occur without LH and FSH deficiency, as our patients show.
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- Battin J., Colle M. Heterogeneite du syndrome "cryptorchidie". Etude de la reserve hypophysaire en gonadotrophines chez 50 enfants cryptorchides non puberes. Arch Fr Pediatr. 1977 Aug-Sep;34(7):595–603. [PubMed] [Google Scholar]
- Bernasconi S., Vanelli M., Rocca M., Mattioli M., Nori G., Cantarelli A., Ferrara D. Eterogeneità della riserva ipofisaria di gonadotropine nei bambini criptorchidi. Minerva Pediatr. 1979 Nov 30;31(22):1575–1579. [PubMed] [Google Scholar]
- Carey J. C., Hall B. D. Confirmation of the Cohen syndrome. J Pediatr. 1978 Aug;93(2):239–244. doi: 10.1016/s0022-3476(78)80504-6. [DOI] [PubMed] [Google Scholar]
- Cohen M. M., Jr, Hall B. D., Smith D. W., Graham C. B., Lampert K. J. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr. 1973 Aug;83(2):280–284. doi: 10.1016/s0022-3476(73)80493-7. [DOI] [PubMed] [Google Scholar]