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Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?
Clin Dysmorphol. 2007 Jan; 16(1):15-20.CD

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.

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Authors+Show Affiliations

García-Ortiz JE
Divisions of Genetics, University of Guadalajara; Guadalajara, Mexico.
García-Cruz D
No affiliation info available
Dávalos IP
No affiliation info available
Nazará Z
No affiliation info available
García-Cruz MO
No affiliation info available
Castañeda V
No affiliation info available
Gutiérrez-Mendivil L
No affiliation info available
Sánchez-Corona J
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentChildCraniofacial DysostosisFemaleGenes, RecessiveHeart AtriaHeart Defects, CongenitalHumansIntellectual DisabilityLimb Deformities, CongenitalMaleMicrocephalyPedigreeQuantitative Trait LociSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17159509

Citation

García-Ortiz, José Elías, et al. "Microcephaly, Distinctive Facies, Single Atrium, Postaxial Polydactyly, Skeletal Defects and Mental Retardation: a New Familial Faciocardiomelic Syndrome?" Clinical Dysmorphology, vol. 16, no. 1, 2007, pp. 15-20.
García-Ortiz JE, García-Cruz D, Dávalos IP, et al. Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome? Clin Dysmorphol. 2007;16(1):15-20.
García-Ortiz, J. E., García-Cruz, D., Dávalos, I. P., Nazará, Z., García-Cruz, M. O., Castañeda, V., Gutiérrez-Mendivil, L., & Sánchez-Corona, J. (2007). Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome? Clinical Dysmorphology, 16(1), 15-20.
García-Ortiz JE, et al. Microcephaly, Distinctive Facies, Single Atrium, Postaxial Polydactyly, Skeletal Defects and Mental Retardation: a New Familial Faciocardiomelic Syndrome. Clin Dysmorphol. 2007;16(1):15-20. PubMed PMID: 17159509.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome? AU - García-Ortiz,José Elías, AU - García-Cruz,Diana, AU - Dávalos,Ingrid Patricia, AU - Nazará,Zamira, AU - García-Cruz,María Olga, AU - Castañeda,Víctor, AU - Gutiérrez-Mendivil,Leonel, AU - Sánchez-Corona,Jose, PY - 2006/12/13/pubmed PY - 2007/1/26/medline PY - 2006/12/13/entrez SP - 15 EP - 20 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 16 IS - 1 N2 - 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/17159509/Microcephaly_distinctive_facies_single_atrium_postaxial_polydactyly_skeletal_defects_and_mental_retardation:_a_new_familial_faciocardiomelic_syndrome L2 - https://doi.org/10.1097/01.mcd.0000198929.24577.a5 DB - PRIME DP - Unbound Medicine ER -