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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.

Authors+Show Affiliations

Divisions of Genetics, University of Guadalajara; Guadalajara, Mexico.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -