Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 6-year-old girl had an excessively rapid longitudinal growth of early onset (height age of 9 years), moderate obesity, large hands and feet, a large dolichocephalic head and facial features as described in Sotos syndrome or cerebral gigantism. In addition, she exhibited mental dullness, hypotonia and clumsiness. CT scanning of the head demonstrated major ventricular anomalies and absence of corpus callosum. Fundoscopy and electroretinography revealed an early stage of atrophic macular degeneration (AMD) with cone dysfunction, bilaterally. Wether this association of cerebral gigantism and AMD is fortuitous or not is unknown.
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PMID:Cerebral gigantism (Sotos syndrome) with juvenile macular degeneration. 741 Jan 7