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Marshall–Smith syndrome : ウィキペディア英語版
Marshall–Smith syndrome

Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Cases described in the literature show a clinical variabililty regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.
==Phenotype==

The syndrome is a rare clinical disorder.〔(Cases Reported On Abnormalities, Multiple. MEDICAL DIAGNOSIS AND MEDICINAL PLANTS )〕
* Physical
*
* Overgrowth
*
* Accelerated skeletal maturation
*
* Dysmorphic facial features〔
*
*
* Prominent eyes
*
*
* Bluish sclerae〔
*
*
* Coarse eyebrows〔
*
*
* Upturned nose〔
*Radiologic examination
*
* Accelerated osseous maturation〔
*
* Phalangeal abnormalities〔
*
* Tubular thinning of the long bones〔
*
* Skull abnormalities〔
*Mental
*
* Often associated with mental retardation (of variable degree)〔

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Marshall–Smith syndrome」の詳細全文を読む



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