title: Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?
abstract: 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.
authors.affiliation: Divisions of Genetics Molecular Medicine Medical Unit of High Specialty, CMNO-IMSS Zone Regional Hospital No. 46, IMSS Health Sciences University Center, University of Guadalajara; Guadalajara, Mexico Medical Unit of High Specialty, CMNNO-IMSS, Obregon, México.
authors.forename: José Elías
authors.initials: JE
authors.lastname: García-Ortiz
authors.forename: Diana
authors.initials: D
authors.lastname: García-Cruz
authors.forename: Ingrid Patricia
authors.initials: IP
authors.lastname: Dávalos
authors.forename: Zamira
authors.initials: Z
authors.lastname: Nazará
authors.forename: María Olga
authors.initials: MO
authors.lastname: García-Cruz
authors.forename: Víctor
authors.initials: V
authors.lastname: Castañeda
authors.forename: Leonel
authors.initials: L
authors.lastname: Gutiérrez-Mendivil
authors.forename: Jose
authors.initials: J
authors.lastname: Sánchez-Corona
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000293:Adolescent; D002648:Child; D003394:Craniofacial Dysostosis / Q000235:genetics / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006325:Heart Atria / Q000473:pathology; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D040641:Quantitative Trait Loci; D013577:Syndrome