Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: description of two new patients.
We describe laryngeal malformations and voice disorders in two new patients with the autosomal recessive Richieri-Costa and Pereira form of acrofacial dysostosis. This report confirms the data on the first five patients we had already presented in 1996.
Tabith
Alfredo
A
Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil.
Bento-Gonçalves
Cristina Guedes de Azevedo
CG
D000328:Adult; D002648:Child; D003025:Clubfoot / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007830:Larynx / Q000002:abnormalities*; D008342:Mandibulofacial Dysostosis / Q000473:pathology*; D014832:Voice Disorders / Q000503:physiopathology