New syndrome of growth and mental retardation, structural anomalies of thecentral nervous system, and first branchial arch, anophthalmia, heminasal A/hypoplasia, and atypical clefting: Report on four Brazilian patients

We report on four unrelated Brazilian patients with growth and mental retar dation, structural anomalies of the central nervous system (CNS), mainly ca llosal agenesis, prominent forehead, facial asymmetry, anophthalmia, hemina sal a/hypoplasia, preauricular skin tags, structural anomalies of the exter nal ears, and atypical clefting, This combination of anomalies is unique an d, to our knowledge, is a previously undescribed syndrome of unknown etiolo gy, although one of the patients was born to a consanguineous couple, sugge sting the possibility of autosomal recessive inheritance. Clinical, genetic , and differential diagnosis aspects are discussed. Am. J, Med. Genet. 87:2 37-244, 1999, (C) 1999 Wiley-Liss, Inc.