Rubinstein-Taybi syndrome: a follow-up study

American Journal of Medical Genetics. Supplement
M W Partington

Abstract

Eighteen patients with a diagnosis of the Rubinstein-Taybi syndrome (RTS) 18 to 23 years ago were traced and the survivors were seen personally. The diagnosis was confirmed in 11 patients. Three of these, all women, had died (ages 9, 37, and 52 years) from infections. The remaining 8 were doing well despite a variety of medical problems including structural lesions of the eyes, severe dental caries, gastroesophageal reflux, and mild keloid scarring. The original diagnosis could not be confirmed in 7 patients although some characteristics of the RTS were found in each. One patient was thought to have the Cornelia de Lange syndrome, and one the Ruvalcaba syndrome but no formal diagnosis was reached in the others.

References

Sep 1, 1987·Journal of Medical Genetics·A C Berry
Apr 1, 1988·American Journal of Medical Genetics·N Fitch
Sep 1, 1971·The Journal of Pediatrics·R H RuvalcabaD W Smith
Feb 1, 1968·Archives of Disease in Childhood·C J PadfieldN E Simpson
Jun 1, 1963·American Journal of Diseases of Children·J H RUBINSTEIN, H TAYBI

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Citations

Mar 1, 1994·Pediatric Dermatology·S CambiaghiR Caputo
Aug 19, 2014·The British Journal of Dermatology·A L van de KarR C M Hennekam

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