Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

American Journal of Medical Genetics. Part a
M L Guion-AlmeidaR M Zechi-Ceide

Abstract

We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate. To date only three males and one female, all sporadic cases, with a similar condition have been reported. This article describes the first familial case with this rare condition indicating autosomal dominant or X-linked inheritance.

References

Sep 2, 2004·European Journal of Human Genetics : EJHG·Ozge Altug TeberDagmar Wieczorek
Jun 9, 2006·Clinical Dysmorphology·Maria Leine Guion-AlmeidaAlfredo Tabith Ju Nior
Apr 14, 2007·American Journal of Medical Genetics. Part a·David A StevensonSarah T South
Jun 8, 2007·Orthodontics & Craniofacial Research·Jill DixonMichael J Dixon
Jan 1, 2001·Indian Journal of Otolaryngology and Head and Neck Surgery : Official Publication of the Association of Otolaryngologists of India·P C VermaD D Hemani

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Citations

Oct 29, 2015·Human Mutation·Lijia HuangMatthew A Lines
Feb 13, 2013·American Journal of Medical Genetics. Part a·Mislen BauerM Michael Cohen
Mar 5, 2015·American Journal of Medical Genetics. Part a·Arindam SarkarSeema R Lalani
Apr 14, 2015·Clinical Genetics·D LehalleC T Gordon
Feb 7, 2012·American Journal of Human Genetics·Matthew A LinesKym M Boycott
Aug 1, 2014·Molecular Genetics & Genomic Medicine·Maria Rita Passos-BuenoLuciano Abreu Brito
Jun 15, 2017·Journal of Genetic Counseling·Linford A WilliamsWendy R Uhlmann

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