弁状創

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1. 微細欠失症候群（1番～11番染色体）microdeletion syndromes chromosomes 1 to 11 [show details]
…subclasses in serum is recommended to assess for humoral deficiency. Sotos syndrome (MIM #117550), also known as cerebral gigantism, is caused by haploinsufficiency of the nuclear receptor-binding SET …
2. 高身長や異常に急激な成長がみられる小児the child with tall stature and or abnormally rapid growth [show details]
…birth caused by maternal diabetes and later development of obesity. Infants with cerebral gigantism (Sotos syndrome, ) tend to be large at birth and continue to grow rapidly during the early years of …
3. 乳児や小児の巨頭症：病因および評価macrocephaly in infants and children etiology and evaluation [show details]
…develop hydrocephalus. Cerebral gigantism (Sotos syndrome) – is an overgrowth syndrome with prenatal onset. In addition to megalencephaly, children with cerebral gigantism also may develop hydrocephalus …
4. ウィルムス腫瘍の症状、診断、および病期分類presentation diagnosis and staging of wilms tumor [show details]
…– There is a 2 to 3 percent risk of Wilms tumor in children with Sotos syndrome (also referred to as cerebral gigantism). Sotos syndrome is an overgrowth syndrome associated with facial, extremity, and…
5. ベックウィズ・ヴィーデマン症候群beckwith wiedemann syndrome [show details]
…anteverted upper lip, mild micrognathia) and intellectual disability. Sotos syndrome (MIM #117550) – Unique features of Sotos syndrome that differentiate it from BWS include macrocephaly, typical facial …