Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report.
作者： Tatsuro Kondoh , Jiro Eguchi , Yoichiro Hamasaki , Tomoki Doi , Eiichi Kinoshita
DOI: 10.1002/AJMG.A.20461
关键词:
摘要: We report on a 3-year-old boy with circumferential skin creases as seen in Michelin tire baby syndrome (MTBS), hearing impairment, undescended testes, short stature, and mental handicap. Skin biopsy from the inguinal region showed degenerative collagen, which has never been found MTBS. Similar clinical manifestations shared by our patient reported previously suggest new entity, collagen is etiologically involved. propose an acronym to designate it: testis, creases, handicap (HITCH) syndrome.
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