New dysmorphic features in Rubinstein-Taybi syndrome.
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.
Kanjilal
D
D
Department of Pediatrics, Lincoln Medical and Mental Health Center-New York Medical College, Bronx 11206.
Basir
M A
MA
Verma
R S
RS
Rajegowda
B K
BK
Lala
R
R
Nagaraj
A
A
D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D008944:Mitral Valve Insufficiency / Q000235:genetics*; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics / Q000473:pathology*