New dysmorphic features in Rubinstein-Taybi syndrome. J Med Genet 1992 Sep;29(9):669-70
Date
09/01/1992Pubmed ID
1404300Pubmed Central ID
PMC1016103DOI
10.1136/jmg.29.9.669Scopus ID
2-s2.0-0026794788 (requires institutional sign-in at Scopus site) 9 CitationsAbstract
We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ductus arteriosus, and motor and mental retardation. The testes were descended. The 3 month old patient had delayed motor and mental development corresponding to a 1 month old infant.
Author List
Kanjilal D, Basir MA, Verma RS, Rajegowda BK, Lala R, Nagaraj AAuthor
Mir Abdul Basir MD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
HumansHypertension, Pulmonary
Infant, Newborn
Karyotyping
Kidney
Male
Mitral Valve Insufficiency
Rubinstein-Taybi Syndrome