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Title: Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: A new familial faciocardiomelic syndrome?
Author: Garcia-Ortiz, J.E.
Garcia-Cruz, D.
Davalos, I.P.
Nazara, Z.
Garcia-Cruz, M.O.
Castaneda, V.
Gutierrez-Mendivil, L.
Sanchez-Corona, J.
Issue Date: 2007
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. © 2007 Lippincott Williams & Wilkins, Inc.
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