Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity.
Oblique facial clefts are rare and include types 2-6 of Tessier's classification. Here we report on 4 patients with oblique facial clefts and a strikingly similar facial appearance. The pattern of facial involvement, the presence of consanguinity in 3 of them, as well as the entire clinical picture, suggest a unique dysmorphogenetic process which could represent, in some instances, an oculomaxillofacial dysostosis.
Richieri-Costa
A
A
Servico de Genética Clínica, Hospital de Pesquisa E. Reabiliticão de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Gorlin
R J
RJ
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D000652:Amniotic Band Syndrome / Q000150:complications; D002972:Cleft Palate / Q000209:etiology; D003241:Consanguinity; D003394:Craniofacial Dysostosis / Q000145:classification; D005124:Eye Abnormalities / Q000473:pathology*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006801:Humans; D007231:Infant, Newborn; D008297:Male