Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature. This child, in addition to the above, has livedo reticularis and microcephaly. He was of normal birthweight and, therefore, does not come into the syndrome of microcephaly, snub nose, livedo reticularis, and low birthweight dwarfism. Further information on Yq- should be obtained to ascertain if consistent patterns of abnormalities exist.
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PMID:Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation. 714 92

A 5-year-old Korean boy with diagnosis of cutis marmorata telangiectatica congenita had a bluish-red, widespread livedo network over the entire body surface. There was skin atrophy as well as ulceration and crust over some of the lesions. These abnormalities have been associated with mental retardation with abnormal EEG findings, speech disability, defective growth, cleft palate, presence of simian lines and an increase in the atd angles of both palms, diffuse demineralization of bony structure and weakness of the long extensor muscles of both thumbs. Based on our clinical datas and review of world literature, it would seem to be necessary to change the terminology.
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PMID:Cutis marmorata telangiectatica with multiple congenital anomalies (van Lohuizen's syndrome). 733 96

Sneddon's syndrome is a rare disease with strong gender prevalence of females. This syndrome is characterized by livedo racemosa and cerebrovascular lesions. Since no specific test is available, the clinical differentiation from other disorders with similar symptomatology may raise difficulties. The cerebral involvement includes strokes with cases of more than one ischaemic event having been reported. Associations with convulsions, heart valve disease, systemic hypertension, and renal impairment have been described. We report the case of a 5-year-old boy who was anaesthesized for dental surgery. Due to the fact that 50% of Sneddon's syndrome patients develop mental retardation, even minor procedures require general anaesthesia. A review of the literature is added and specific anaesthesiological aspects of the perioperative care of Sneddon's syndrome are discussed.
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PMID:Anaesthesiological considerations in patients with Sneddon's syndrome. 1111 4