Portal de Periódicos da CAPES

Artigo Produção Nacional Revisado por pares

BIBTEX RIS

Michel's syndrome: 2nd case reported in Brazil, 8th in medical literature

2015; Wiley; Volume: 29; Issue: S1 Linguagem: Inglês

10.1096/fasebj.29.1_supplement.870.3

1530-6860

Sandra de Q. Uzeda, Luís Otávio Carvalho de Moraes, Daniella Curcio, Luís Garcia Alonso,

Ocular Disorders and Treatments

Oculopalatoskeletal syndrome is a rare condition affecting the anatomy of craniofacial structures. First described in 1978 by Michels et al., it includes developmental defects in the anterior eye chamber, cleft lip-palate and minor skeletal abnormalities. We here report the case of a 30-month-old boy, born to young and healthy parents, second cousins. Among signs considered for the differential diagnoses from Ohdo syndrome are absence of renal and abdominal symptoms and normal cognitive development. Future investigations will explore a possible linkage between Michel's and Ohdo's syndromes. We hypothesize that both are allelic manifestations associated to the locus 3q22-q23 that determines blepharophimosis, ptosis and epicanthus inversus. Such analysis may contribute to elucidate correlations and causations between dental anomalies, related to development of ectodermal and mesodermal elements, and skeletal anomalies, related to structures derived from the mesodermal germ layer and neural crest cells.