RAPADILINO syndrome.
We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome.
Vargas
F R
FR
Centro de Genética Médica, Instituto Fernandes Figueira, FIOCRUZ, Rio de Janeiro, Brazil.
de Almeida
J C
JC
Llerena Júnior
J C
JC
Reis
D F
DF
D000015:Abnormalities, Multiple / Q000473:pathology; D001003:Anal Canal / Q000002:abnormalities; D002648:Child; D004392:Dwarfism; D005145:Face / Q000002:abnormalities*; D006344:Heart Septal Defects, Atrial; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D010329:Patella / Q000002:abnormalities; D013577:Syndrome