Chondrodystrophic dwarfism and multiple malformations in two sisters.
A genetic skeletal dysplasia with dwarfism, scoliosis and multiple skeletal defects was observed in two sisters. Only nine cases with similar features have been reported in the literature.
Pazzaglia
U E
UE
Clinica Ortopedica dell'Università di Pavia, Italy.
Pedrotti
L
L
Beluffi
G
G
Ceciliani
L
L
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D003241:Consanguinity; D004392:Dwarfism / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography