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Carpenter syndrome : ウィキペディア英語版 | Carpenter syndrome
Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, and syndactyly.〔 It was first characterized in 1909.〔, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2047261/pdf/procrsmed00844-0053.pdf〕 ==Presentation==
Carpenter syndrome presents several features: * Tower-shaped skull (craniosynostosis) * Additional or fused digits (fingers and toes) * Obesity * Reduced height Intellectual disability is also common with the disorder, although some patients may have average intellectual capacity.
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「Carpenter syndrome」の詳細全文を読む
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