A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.
We report on two new Brazilian cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate. Follow-up of these patients revealed growth and mental retardation, and severe language and speech delay. A review of the literature and database programs did not find any syndromes that matched this constellation of findings. We believe that this combination of signs represents a new mandibulofacial dysostosis syndrome whose etiology is unknown.
Guion-Almeida
Maria Leine
ML
Clinical Genetics Phoniatry, Hospital de Reabilitac¸a˜o de Anomalias Craniofaciais, University of Sa˜o Paulo (USP), Bauru Divisa˜o de Educac¸a˜o e Reabilitac¸a˜o dos Distu´rbios da Comunicac¸a˜o, Pontifícia University of Sa˜o Paulo, SP, Brazil.
Zechi-Ceide
Roseli Maria
RM
Vendramini
Siulan
S
Ju Nior
Alfredo Tabith
AT
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000473:pathology; D004423:Ear / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000473:pathology*; D008831:Microcephaly / Q000473:pathology*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities