Acrocallosal syndrome: report of a Brazilian girl.
We report on a Brazilian girl born to nonconsanguineous parents and presenting with frontonasal dysostosis, callosal agenesis, abnormal upper lids, cleft lip/palate, redundant skin in the neck, grooved chin, and bifid thumbs. Major diagnostic criteria present in this patient are related to the acrocallosal syndrome. The clinical and major nosologic aspects of this condition are discussed.
Guion-Almeida
M L
ML
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Richieri-Costa
A
A
D061085:Agenesis of Corpus Callosum; D003394:Craniofacial Dysostosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D010641:Phenotype; D013577:Syndrome