Mandibulofacial Dysostosis Syndrome, Bauru Type

Marcano and Richieri-Costa (1998) reported a Brazilian family with 5 individuals, in 3 generations, with malar hypoplasia, cleft lip with or without cleft palate, mild upslanting palpebral fissures, and abnormal ears. The authors suggested that this phenotype may represent a novel mandibulofacial dysostosis syndrome, which they designated 'Bauru type,' inherited in an autosomal dominant manner. Zechi-Ceide and Guion-Almeida (1999) reported a female patient with upslanting palpebral fissures, high nasal bridge, malar hypoplasia, Robin sequence with severe micrognathia, and hypoplastic tragus and ear lobes. No other family members were affected. The authors suggested that this patient may have the same condition with variable expressivity as that reported by Marcano and Richieri-Costa (1998). The absence of clinical findings in the parents of the patient supported the possibility of a novel mutation leading to the condition.