Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: A case report
✍ Scribed by Kondoh, Tatsuro ;Eguchi, Jiro ;Hamasaki, Yoichiro ;Doi, Tomoki ;Kinoshita, Eiichi ;Matsumoto, Tadashi ;Abe, Kuniko ;Ohtani, Yoshinobu ;Moriuchi, Hiroyuki
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 102 KB
- Volume
- 125A
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Abstract
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 in MTBS. Similar clinical manifestations shared by our patient and a boy reported previously suggest a new clinical entity, in which degenerative collagen is etiologically involved. We propose an acronym to designate it: hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome. © 2003 Wiley‐Liss, Inc.