|
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 スポンサード リンク
|