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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 1973 Cohen et al reported a new syndrome in two siblings and an unrelated individual, consisting of obesity, mental retardation, hypotonia, limb abnormalities, and a characteristic craniofacial appearance. Since then no similar cases have appeared in the literature. This report firmly establishes the Cohen syndrome as a distinct clinical entity by presenting four additional patients, including a sibling pair of normal parents, suggesting autosomal recessive inheritance. One of our four patients has normal intelligence, indicating that mental deficiency is a variable feature of the syndrome.
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PMID:Confirmation of the Cohen syndrome. 67 Nov 57

Obesity occurs in both clinical and animal forms in a variety of specific models which allow study of its underlining endocrine and mechanistic features. Among the neuroendocrine varieties of obesity, polycystic ovaries are probably the most common. The importance of the gonadal feedback system for regulation of food intake and obesity is indicated by the effects of castration in experimental animals which is a widely used mechanism for producing experimental obesity. Cushing syndrome and hypothalamic obesity are rare clinical syndromes. The current evidence suggests that there are two types of hypothalamic obesity from a mechanistic point of view--one associated with hyperphagia as a necessary and sufficient cause and a disturbance of the autonomic nervous system without hyperphagia as a second mechanism. Although genetic factors underlie most types of human obesity, there are several dymorphic forms of obesity including the Prader-Willy syndrome, Cohen's syndrome, Carpenter's syndrome, Ahlstrom's syndrome and the Bardet-Biedel syndrome. The Prader-Willi syndrome is characterized by obesity hypotonia hypogonadism and mental retardation. In animals, a dominant form of inheritance of obesity is seen in the yellow mouse. Current evidence suggests that this syndrome can be explained by reduced acetylation of MSH in the pituitary and/or hypothalamus. Several recessively inherited forms of obesity exist including the obese mouse, the diabetes mouse, fatty rat, the fat mouse, tubby mouse and the corpulent rat. In addition, there are a number of polygenic types of experimental obesity. The final mechanistic classification of obesity are those due to dietary manipulation. For both human beings and animals, a highly fat diet appears to be particularly problematic for the development of obesity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Genetic, hypothalamic and endocrine features of clinical and experimental obesity. 148 Jul 57

A new familial cases of the Cohen syndrome in two brothers of one-half second-cousin parents is reported. Typical clinical manifestations of the syndrome; i.e., mental deficiency, hypotonia, characteristic facial appearance, long, narrow hands and feet with elongated fingers, and mottled retinae were present in both patients. Both patients also had leukopenia. Clinical manifestations of the Cohen syndrome in patients are highly variable, and mottled retina has been observed in 22 of 87 patients (25%). However, an association of mottled retina in patients with the Cohen syndrome is likely to be related to the families and ethnic groups. Among 19 familial cases, mottled retina was observed in all affected sibs from five families, but in 13 families none of the affected sibs had the mottled retina. All Finnish patients had the mottled retina, but this was noted in only one of 39 Jewish patients. Based on these data, we hypothesize that two alleles at the gene locus for the Cohen syndrome exhibit different clinical manifestations: one is a Finnish type with mottled retina, and the other is a Jewish type without retinal anomalies.
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PMID:The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type? 224 27

Here we report on a de novo apparently balanced reciprocal 5q;7p translocation in a 15-year-old girl with apparent Cohen syndrome characterized by hypotonia, obesity, multiple congenital anomalies, and mental retardation. This case may indicate that the gene for Cohen syndrome is at 5q33.1 or 7p15.1.
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PMID:Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1). 226 Jun 6

The authors report a case with features of the Cohen syndrome: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, muscle hypotonia, mental deficiency, limb anomalies associated with other clinical expressivity present among the previous reported cases. The reported case is of particular interest: the distal limbs anomalies are peculiar with marked shortening of metacarpals and metatarsals. A review of the other cases is also reported and discussed in order to stress the most frequent manifestations of the syndrome and delineate the major clinical characteristics.
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PMID:[Cohen syndrome. Contribution to its clinical delineation]. 317 85

A new familiar observation of Cohen syndrome in two brothers is reported. A patient exhibited the typical features of the disease, i.e. obesity, mental retardation, hypotonia, limb abnormalities and a characteristic craniofacial appearance. The frequency of clinical signs is reviewed from all the published reports.
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PMID:[Cohen syndrome in 2 brothers]. 356 Jul 67

Three sibs with Cohen syndrome are presented. Abnormalities present in all three children include mental retardation, hypotonia, and short philtrum with open mouth and prominent lips. The older two sibs have a similar facies and an engaging personality. The youngest child shows a different facial appearance and marked behavioural problems, thereby illustrating the intrafamilial variability which may occur in this disorder.
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PMID:Intrafamilial variation in Cohen syndrome. 365 71

The Cohen syndrome is an autosomal recessive disorder which is characterized by hypotonia, obesity, mental deficiency, and facial, oral and ocular anomalies. During a twelve-year period of observation, the authors' patient manifested pigmentary retinal degeneration and a bull's eye macular lesion. The Cohen syndrome must be included in the differential diagnosis of syndromes with retinitis pigmentosa.
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PMID:Cohen syndrome with bull's eye macular lesion. 370 86

A new familial observation of Cohen syndrome in two sisters is reported. Both children exhibited the typical features of Cohen syndrome, i.e. obesity, hypotonia, mental deficiency and a dysmorphic syndrome mainly involving the facies and extremities. More accurate delineation of the nosologic limits of this syndrome is ensured by a critical review of the 17 observations published in the medical literature, which include 9 familial cases: the contribution of subsequent observations to the initial description is pointed out. Attention is drawn to the unusual course of the obesity which typically occurs after five years of age, in contrast to common obesities. Furthermore, Cohen syndrome is remarkable by the morphologic abnormalities, particularly those of the facies, which should suggest the diagnosis. As in our observation, data from the literature is in support of autosomic recessive inheritance which implies restrictive genetic counseling.
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PMID:[Cohen's syndrome in 2 sisters]. 632 7

The Cohen syndrome is a genetic disorder consisting of mental retardation, obesity, hypotonia, and a characteristic craniofacial appearance. Since its original description, 13 patients have been reported. This presentation gives an account of 5 additional cases in 4 families and provides further evidence that this disorder is most probably transmitted as an autosomal recessive trait. This study also demonstrates the range of clinical features observed in this syndrome and suggests that the basic defect may be one of connective tissue.
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PMID:The Cohen syndrome: report of five new cases and a review of the literature. 716 92


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