Concepedia

Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein‐Taybi syndrome

M. L. Guion‐Almeida, A. Richieri‐Costa

American Journal of Medical Genetics · 1992 · 27 citations · 7 references

DOI

Abstract

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.

References

7

Rubinstein-Taybi syndrome in the Netherlands

Raoul C. M. Hennekam, Marie-José van den Boogaard, Barbara Sibbles et al. · American Journal of Medical Genetics · 2005 · 117 citations

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Growth in the Rubinstein-Taybi syndrome

Cathy A. Stevens, Raoul C. M. Hennekam, Brent L. Blackburn · American Journal of Medical Genetics · 2005 · 52 citations

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Rubinstein-Taybi syndrome: The changing face

Judith Allanson · American Journal of Medical Genetics · 2005 · 42 citations

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The Dubowitz syndrome: The psychological status of ten cases at follow‐up

J. M. Parrish, R. Sid Wilroy, R. Brian Lowry · American Journal of Medical Genetics · 1980 · 37 citations

Rubinstein-Taybi syndrome: A follow-up study

M. W. Partington · American Journal of Medical Genetics · 2005 · 18 citations

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