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CHILD syndrome : ウィキペディア英語版 | CHILD syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.〔Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.〕 The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with minimal linear or segmental contralateral involvement.〔 The acronym was introduced in 1980. ==History== The earliest recorded case of CHILD syndrome was in 1903. Otto Sachs was accredited for first describing the clinical characteristics of the syndrome in an 8-year old girl. The nearest proceeding news on the topic was a report in 1948 by Zellweger and Uelinger, who reported a patient with “half-sided osteochondrodermatitis and nevus ichthyosiformis.” The first case of CHILD syndrome with ocular manifestations in a patient suffering from progressive bilateral optic nerve atrophy was recently reported in 2010 by Knape et al.
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