title: 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?
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.
authors.affiliation: Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil. mlguion@centrinho.usp.br
authors.forename: Maria Leine
authors.initials: ML
authors.lastname: Guion-Almeida
authors.forename: Siulan
authors.initials: S
authors.lastname: Vendramini-Pittoli
authors.forename: Maria Rita Santos
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: Roseli Maria
authors.initials: RM
authors.lastname: Zechi-Ceide
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000150:complications*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D050172:Genes, X-Linked / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications / Q000235:genetics*; D008831:Microcephaly / Q000150:complications*; D009035:Mothers; D009679:Nuclear Family; D011247:Pregnancy; D012868:Skin Abnormalities / Q000150:complications*; D013577:Syndrome