Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of Rothmund-Thomson syndrome in siblings are described. The elder patient, whose case was best documented and who was followed for several years, had the characteristic skin changes of poikiloderma congenitale with small stature and mental deficiency. Upon ophthalmologic examination, this patient was shown to have bilateral glaucoma which was treated surgically, while the cataract typically found in Rothmund-Thomson syndrome was lacking. Primary hypogonadism was confirmed by endocrinologic investigations; anterior pituitary hormones were normally released. With reference to this observation differential diagnosis is discussed; the medical literature is reviewed.
Sem Hop 1983 Dec 22
PMID:[Rothmund-Thompson syndrome with glaucoma. Endocrine study]. 631 63

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.
Sem Hop 1984 Apr 12
PMID:[Cohen's syndrome in 2 sisters]. 632 7


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