[Metatropic dysplasia: a new case].
A new case of metatropic dysplasia in a 2.5 month old child is presented. Diagnoses was made in base of special face, long thorax, shortness of extremities with restricted joint mobility, kyphoscoliosis and a caudal appendage overlying the sacrum. Radiologically, expanded and irregular metaphyses of shortened tubular bones, platyspondyly and kyphoscoliosis. With growth, patients develop changes in body proportions. This syndrome is transmitted as an autosomal recessive. Prevention by genetic counseling is the principal measure.
Alvarez García
F J
FJ
Departamento de Pediatría, Facultad de Medicina, Hospital Nuestra Señora de Covadonda Oviedo.
Rodríguez de la Rúa
M V
MV
Rodríguez Fernández
L M
LM
Benavides Benavides
A
A
Fernández Toral
J
J
D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography
Displasia metatrópica: un nuevo caso.