A mild variant of Desbuquois dysplasia.
On the basis of three newly observed cases (a pair of siblings and a sporadic case) and one previously reported case, we describe the clinical and radiological phenotype of a skeletal dysplasia resembling Desbuquois dysplasia. The skeletal alterations in the present disorder, including generalized osteopenia, mild modification of the vertebral endplates, epiphyseal flattening of the long bones, broad proximal femora with a spur-like projection of the lesser trochanters (a monkey wrench appearance of the proximal femora), and advanced carpal skeletal age, are almost identical to those of Desbuquois dysplasia. However, postnatal growth failure and minor spondylo-articular problems in the present disorder contrast with the conspicuous prenatal growth failure and severe spondylo-articular deformities of Desbuquois dysplasia. Short stature in the present disorder does not reach the degree of Desbuquois dysplasia. Molecular investigation of one patient excluded abnormalities of the diastrophic dysplasia sulphate transporter gene.


CONCLUSIONS
The combination of skeletal alterations identical to those of Desbuquois dysplasia with milder short stature and spondylo-articular problems in the present patients suggests the nosological proposal of "a mild variant of Desbuquois dysplasia".
Nishimura
G
G
Department of Radiology, Dokkyo University School of Medicine, Tochigi-ken, Japan. gen-n@dokkyomed.ac.jp
Hong
H S
HS
Kawame
H
H
Sato
S
S
Cai
G
G
Ozono
K
K
D000015:Abnormalities, Multiple; D027321:Anion Transport Proteins; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins; D010641:Phenotype; D011859:Radiography; D000076988:Sulfate Transporters; D013431:Sulfates / Q000378:metabolism
D027321:Anion Transport Proteins; D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates