Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?

Autor:	D. García-Cruz, Zamira Nazará, M O García-Cruz, Ingrid P. Dávalos, Victor Castañeda, José Elias García-Ortiz, Leonel Gutiérrez-Mendivil, José Sánchez-Corona
Rok vydání:	2007
Předmět:	Heart Defects Congenital Male Postaxial polydactyly Microcephaly Postaxial polydactyly type A Adolescent Retardation a Quantitative Trait Loci Limb Deformities Congenital Distinctive facies Genes Recessive Pathology and Forensic Medicine Intellectual Disability Faciocardiomelic Syndrome medicine Humans Abnormalities Multiple Heart Atria Child Genetics (clinical) business.industry Craniofacial Dysostosis Syndrome General Medicine Anatomy medicine.disease Pedigree Facial appearance Pediatrics Perinatology and Child Health Female Single atrium business
Zdroj:	Clinical Dysmorphology. 16:15-20
ISSN:	0962-8827
DOI:	10.1097/01.mcd.0000198929.24577.a5
Popis:	Three siblings with postaxial polydactyly type A, congenital heart defect (single atrium), mental retardation, microcephaly, a distinctive facial appearance, skeletal anomalies and neonatal macrosomy were studied. Comparison with other cardiomelic syndromes previously described in the literature lead us to conclude that this is a new faciocardiomelic syndrome probably inherited as an autosomal recessive trait.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a3485246eba061112c0fbacc961f1ac https://doi.org/10.1097/01.mcd.0000198929.24577.a5 Zobrazit plný text záznamu