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?
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.
Guion-Almeida
Maria Leine
ML
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil. mlguion@centrinho.usp.br
Vendramini-Pittoli
Siulan
S
Passos-Bueno
Maria Rita Santos
MR
Zechi-Ceide
Roseli Maria
RM
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