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.
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.
Guion-Almeida
M L
ML
Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil.
Richieri-Costa
A
A
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