Article
Acrocallosal syndrome: report of a Brazilian girl.
American journal of medical genetics - 1 Aug 1992
Guion-Almeida M L, Richieri-Costa A
Abstract excerpt
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 ac...
Topics
- Agenesis of Corpus Callosum
- Craniofacial Dysostosis
- Female
- Genes, Recessive
- Humans
- Infant
- Limb Deformities, Congenital
- Phenotype
- Syndrome
