Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?
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.
García-Ortiz
José Elías
JE
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.
García-Cruz
Diana
D
Dávalos
Ingrid Patricia
IP
Nazará
Zamira
Z
García-Cruz
María Olga
MO
Castañeda
Víctor
V
Gutiérrez-Mendivil
Leonel
L
Sánchez-Corona
Jose
J
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