Medical College of Wisconsin
CTSICores SearchResearch InformaticsREDCap

New dysmorphic features in Rubinstein-Taybi syndrome. J Med Genet 1992 Sep;29(9):669-70

Date

09/01/1992

Pubmed ID

1404300

Pubmed Central ID

PMC1016103

DOI

10.1136/jmg.29.9.669

Abstract

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 A

Author

Mir Abdul Basir MD Associate Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Humans
Hypertension, Pulmonary
Infant, Newborn
Karyotyping
Kidney
Male
Mitral Valve Insufficiency
Rubinstein-Taybi Syndrome