RESUMO
We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and pachygyria. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and/or intracranial calcification is consistent in all molecularly confirmed cases.
Assuntos
Anormalidades Múltiplas/genética , Caseína Quinase I/genética , Proteínas da Matriz Extracelular/genética , Mutação , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Calcinose/patologia , Consanguinidade , Exoftalmia/patologia , Humanos , Recém-Nascido , Lisencefalia/patologia , Masculino , Osteosclerose/patologia , LinhagemRESUMO
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a multiple congenital anomaly syndrome that is considered to be autosomal recessive although no genetic defect has yet been identified. In a consanguineous Saudi family, we have identified four patients who meet the diagnostic criteria of 3C syndrome and who also have alopecia, camptodactaly and significant renal involvement. Interestingly, two otherwise normal female siblings have unilateral renal agenesis only. This report expands the phenotypic spectrum of 3C syndrome.