학술논문
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
Document Type
Academic Journal
Author
Li C; Genetics and Metabolism Program, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada. chumei.li@utoronto.ca; Marles SL; Greenberg CR; Chodirker BN; van de Kamp J; Slavotinek A; Chudley AE
Source
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Subject
Language
English
ISSN
1552-4825
Abstract
The Manitoba Oculotrichoanal (MOTA) syndrome was initially described by Marles et al. [1992; Am J Med Genet 42: 793-799] in Aboriginal patients of the Island Lake region of Northern Manitoba. Characteristic findings in affected patients included unilateral upper eyelid coloboma or cryptophthalmus with ipsilateral aberrant anterior hairline pattern and anal anomalies. We describe here seven new patients of the same extended kindred of Cree/Ojibway ethnicity of the Island Lake region and an eighth patient of Caucasian Dutch parents with clinical findings consistent with the diagnosis of MOTA syndrome. Two of the patients have bilateral, instead of unilateral, abnormal anterior hairline patterns. Omphalocele, a feature previously not identified, is present in three of them. The most consistent features appear to be hypertelorism and a broad or notched tip of the nose. Due to the obvious clinical overlap with Fraser syndrome, FRAS1 gene was screened in two of the affected and no mutation was found [Slavotinek et al., submitted].
(Copyright 2007 Wiley-Liss, Inc.)
(Copyright 2007 Wiley-Liss, Inc.)