Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients.

Martin, R A; Hunter, V; Neufeld-Kaiser, W; Flodman, P; Spence, M A; Furnas, D; Martin, K A

Martin, R A; Hunter, V; Neufeld-Kaiser, W; Flodman, P; Spence, M A; Furnas, D; Martin, K A.

Afiliación

Martin RA; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA. martin_r@kids.wustl.edu

Am J Med Genet ; 90(2): 155-61, 2000 Jan 17.

Article en En | MEDLINE | ID: mdl-10607956

RESUMEN

The phenotypic variability of non-syndromic cleft lip (CL) is broad. We demonstrate that the prevalence of orbicularis oris (OO) muscle anomalies, detectable only by ultrasound, is higher in first-degree relatives of individuals with overt CL than in the general population. These findings suggest that occult OO defects may be part of the spectrum of the CL phenotype, that offspring of individuals with such defects are at an increased risk to develop overt CL, and that ultrasound may be a useful tool in future population studies designed to identify CL susceptibility genes.

Asunto(s)

Labio Leporino; Músculos Faciales/anomalías; Músculos Faciales/diagnóstico por imagen; Niño; Humanos; Labio/diagnóstico por imagen; Fenotipo; Ultrasonografía

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Labio Leporino / Músculos Faciales Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Am J Med Genet Año: 2000 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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