| Literature DB >> 14994239 |
Tatsuro Kondoh1, Jiro Eguchi, Yoichiro Hamasaki, Tomoki Doi, Eiichi Kinoshita, Tadashi Matsumoto, Kuniko Abe, Yoshinobu Ohtani, Hiroyuki Moriuchi.
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. Copyright 2003 Wiley-Liss, Inc.Entities:
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Year: 2004 PMID: 14994239 DOI: 10.1002/ajmg.a.20461
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802