The Cohen syndrome: clinical and endocrinological studies of two new cases.

Abstract

SUMMARY 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 delayed 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.

Cohen syndrome: Report of nine cases and review of the literature, with emphasis on ophthalmic features

“…Strabismus was reported in 29% of patients from our literature review (Table 3), with divergent strabismus being more common than convergent. [1][2][3]12,18,33,34 Chandler et al 14 reported strabismus in up to 80% of patients. In our series, exotropia was present in the 12-year-old patient and esotropia in the 9-year-old girl in family 3.…”

“…[1][2][3][4][5][6] The diagnosis is based on the presence of characteristic craniofacial features (open mouth with prominent central incisors, short philtrum, prominent nasal bridge, high narrow palate, and downslanting of the lid fissures), hypotonia, narrow hands and feet, delayed developmental milestones, microcephaly, retinal dystrophy, and mid-childhood onset truncal obesity. Patients with this condition have a sociable, positive, and cheerful disposition.…”

Duplication or insertion in 15q11–13 associated with mental retardation ‐short stature and obesity ‐ Prader‐Willi or Cohen syndrome?

“…(Cohen et al 1973, Carey & Hall 1978, Balestrazzi et al 1980, Sack & Friedman 1980, Kousseff 1981. However, in the reports of 14 cases of Cohen Syndrome which we could collect from the literature, diabetic type metabolism was not mentioned.…”

“…The nose appeared rather short and slightly upturned (Cohen et al 1973, Balestrazzi et al 1980, Kousseff 1981. The nose appeared rather short and slightly upturned (Cohen et al 1973, Balestrazzi et al 1980, Kousseff 1981.…”

Cohen syndrome: two new cases in siblings

“…Since then, additional reports of the same condition have appeared [1,2,11,18]. To date approximately 20 cases of two sibships [2,3,4,7,17,19] and one case of four sibships [11] have been described, while 100 sporadically occurring cases have also been reported [5,8,11].…”