Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 1964, Sotos and co-workers defined a syndrome of advanced height and bone maturation, dating from birth, mental deficiency and unusual craniofacial appearance with acromegaloid features. About 200 cases have subsequently been reported, more often in males. Occurrence is sporadic, but inheritance may be dominant autosomal. The aetiology is unknown. A two- and a half-year-old boy with Sotos's syndrome is described. He was the first-born child of non-sanguineous healthy parents. The family history revealed no congenital abnormalities and no mental retardation. The proband was born at 36 weeks of gestation with a weight of 4100 g (> P97), length of 53 cm (> P90) and occipital-frontal circumference of 36 cm. His postnatal sornatic linear growth was excessive taking a curve above the 97th percentile. Skeletal maturation and bone age were accelerated. Premature eruption of teeth was observed. Clinical features included macroencephaly, dolichocephaly with a prominent forehead, down-slanting palpebral fissures, hypertelorism, high-arched palate and large hands and feet. His mental deficiency was mild (IQ = 60) with delay of early psychomotor development and expressive language. His karyotype was normal. The CT brain scans revealed mild ventricular dilatation and some cortical atrophy. Electroencephalographic records showed localised theta activity. Endocrinological and metabolic studies failed to show andy definite abnormality.
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PMID:[Soto's syndrome (cerebral gigantism)]. 910 12