title: Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
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].
authors.affiliation: Genetics and Metabolism Program, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada. chumei.li@utoronto.ca
authors.forename: Chumei
authors.initials: C
authors.lastname: Li
authors.forename: Sandra L
authors.initials: SL
authors.lastname: Marles
authors.forename: Cheryl R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: Bernard N
authors.initials: BN
authors.lastname: Chodirker
authors.forename: Jiddeke
authors.initials: J
authors.lastname: van de Kamp
authors.forename: Anne
authors.initials: A
authors.lastname: Slavotinek
authors.forename: Albert E
authors.initials: AE
authors.lastname: Chudley
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D001003:Anal Canal / Q000002:abnormalities*; D002648:Child; D003103:Coloboma / Q000175:diagnosis*; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006554:Hernia, Umbilical / Q000175:diagnosis; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis; D007231:Infant, Newborn; D008297:Male; D008350:Manitoba; D010375:Pedigree; D013577:Syndrome
chemical_list: D016326:Extracellular Matrix Proteins; C475145:FRAS1 protein, human