Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family.
We report on a Brazilian woman with severe mental retardation, facial and skeletal anomalies characterized by hypertelorism, eye anomalies, broad notched nasal tip, cleft lip, highly arched palate, camptobrachysyndactyly of fingers and toes, and anomalies of the feet. A similarly affected brother died at age one year. The clinical picture strongly suggest the diagnosis of the autosomal recessive acro-fronto-facio-nasal dysostosis syndrome (AFFND). Clinical and genetic aspects are discussed.
Richieri-Costa
A
A
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Guion-Almeida
M L
ML
Pagnan
N A
NA
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001938:Brazil; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003878:Dermatoglyphics; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree