Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia.
We report on a Brazilian woman with mandibulofacial dysostosis, cleft lip/palate, vertebral anomalies, abnormally modeled femora, and bilateral tibial agenesis. The clinical aspects involving this patient strongly suggest an unreported condition. Clinical and genetic aspects are discussed.
Richieri-Costa
A
A
Servico de Genética Clinica, Hospital de Pesquisa e Reabilitacão de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Guion-Almeida
M L
ML
van den Ende
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities*