The Cohen syndrome: clinical and endocrinological studies of two new cases.
- 1 December 1980
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (6) , 430-432
- https://doi.org/10.1136/jmg.17.6.430
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.Keywords
This publication has 4 references indexed in Scilit:
- [Heterogeneity of the pituitary reserve of gonadotropins in children with cryptorchism].1979
- Confirmation of the Cohen syndromeThe Journal of Pediatrics, 1978
- [Heterogenity of the cryptorchid syndrome. Study of the pituitary gonadotropin reserve in 50 prepuberal bodys].1977
- A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomaliesThe Journal of Pediatrics, 1973