title: 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.
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.
authors.affiliation: Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil.
authors.forename: M L
authors.initials: ML
authors.lastname: Guion-Almeida
authors.forename: A
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D000853:Anophthalmos / Q000235:genetics; D001934:Branchial Region / Q000002:abnormalities*; D001938:Brazil; D002490:Central Nervous System / Q000002:abnormalities*; D002971:Cleft Lip / Q000235:genetics; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics; D004677:Encephalocele / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome