[Pseudoachondrodysplasia (pseudoachondroplastic spondyloepiphyseal dysplasia). Description of 2 non-familial cases].
Two non familial cases of pseudoachondroplasia are reported. The patients, observed at 4 years and 6 months and 5 years respectively, show short-limb dwarfism with disproportionated long trunk and with normal head and face. Flattening of vertebral bodies with biconvex deformity and short tubular bones with irregular epiphyses and metaphyses are the major radiographic features. In these patients to state the type of genetic transmission is very arduous, as the genetic heterogeneity of the pseudoachondroplasia.
Giordano
F
F
Corso
D
D
Basile
G
G
Noto
D
D
Orsi
E
E
Chiappara
G M
GM
Camera
G
G
D000130:Achondroplasia / Q000000981:diagnostic imaging* / Q000235:genetics; D002675:Child, Preschool; D005190:Family; D006801:Humans; D008297:Male; D011859:Radiography
Pseudoacondroplasia (displasia spondiloepifisaria pseudoacondroplastica). Descrizione di due casi non famigliari.