New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: Report on four Brazilian patients
- 26 November 1999
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 87 (3) , 237-244
- https://doi.org/10.1002/(sici)1096-8628(19991126)87:3<237::aid-ajmg8>3.0.co;2-i
Abstract
We report on four unrelated Brazilian patients with growth and mental retardation, structural anomalies of the central nervous system (CNS), mainly callosal agenesis, prominent forehead, facial asymmetry, anophthalmia, heminasal a/hypoplasia, preauricular skin tags, structural anomalies of the external ears, and atypical clefting. This combination of anomalies is unique and, to our knowledge, is a previously undescribed syndrome of unknown etiology, although one of the patients was born to a consanguineous couple, suggesting the possibility of autosomal recessive inheritance. Clinical, genetic, and differential diagnosis aspects are discussed. Am. J. Med. Genet. 87:237–244, 1999.Keywords
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