Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome.
We report on a Brazilian boy with Rubinstein-Taybi syndrome (RTS) with callosal agenesis, iris coloboma, and megacolon. To our knowledge, callosal agenesis, iris coloboma, and megacolon are unusual signs within the clinical spectrum of RTS, and the present association is apparently underscribed.
Guion-Almeida
M L
ML
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Richieri-Costa
A
A
D061085:Agenesis of Corpus Callosum; D002648:Child; D003103:Coloboma / Q000150:complications*; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D006627:Hirschsprung Disease / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D010641:Phenotype; D011859:Radiography; D012415:Rubinstein-Taybi Syndrome / Q000150:complications* / Q000473:pathology