Bone dysplasias: the A, B, C of radiographic interpretation.
The skeletal dysplasias are a group of genetic disorders affecting skeletal development and maintenance, usually manifesting in childhood with disproportionate short stature. Although individually rare, they are not infrequent as a group. An accurate diagnosis is crucial for prevention and/or treatment of complications, estimate of child's growth, and proper genetic counseling. Radiology is the mainstay of diagnosis. Recognition of single radiographic signs or patterns of anomalies is required to reach the correct diagnosis. The radiographic features of Leri-Weill syndrome and Langer mesomelic dwarfism, two skeletal dysplasias caused by a defect in the short stature homeobox-containing gene, are briefly discussed.
Department of Radiology, Ars Radiologica, Ruffano, Lecce, Italy. scanderbeg@arsradiologica.it
A
A
Castriota-Scanderbeg
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000000981:diagnostic imaging* / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D000074122:Short Stature Homeobox Protein
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein