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Yunis–Varon syndrome : ウィキペディア英語版 | Yunis–Varon syndrome
Yunis–Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia, absent thumbs and distal aphalangia, is an extremely rare autosomal recessive multisystem congenital disorder〔(Yunis Varon Syndrome )〕 which affects the skeletal system, ectodermal tissue, heart and respiratory system. ==Characteristics== Features of YVS include growth retardation before and after birth, defective growth of the bones of the skull along with complete or partial absence of the shoulder blades and characteristic facial features.〔 Additional symptoms may include abnormalities of the fingers and/or toes.〔 In most cases, infants with this disorder experience severe feeding problems and respiratory difficulties. In addition, affected infants may have heart defects.
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「Yunis–Varon syndrome」の詳細全文を読む
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