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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?
Author(s) -
GuionAlmeida Maria Leine,
VendraminiPittoli Siulan,
PassosBueno Maria Rita Santos,
ZechiCeide Roseli Maria
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32816
Subject(s) - microcephaly , autosomal recessive inheritance , medicine , pediatrics , intellectual disability , growth retardation , inheritance (genetic algorithm) , genetics , biology , psychiatry , pregnancy , gene
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. © 2009 Wiley‐Liss, Inc.