[Bone and joint diseases in children. Skeletal dysplasia in children--unrecognized cases in daily practice].
Skeletal dysplasia is a group of diseases caused by aberration of growth, development and differentiation of skeletal tissues including bone and cartilage. Most of the diseases that belong to skeletal dysplasia are monogenic diseases. Diagnosis of skeletal dysplasia during childhood is easier than those in other period of life ; usually we can diagnose them clinically by their characteristic radiographic features and confirm the diagnosis by genetic test when the disease genes are known. However, some skeletal dysplasias may escape from detection because of their mild phenotypes and lack of diagnostic complications, and may be diagnosed as common orthopedic diseases. Here, we present several cases of such skeletal dysplasia that we experienced in our daily practice and highlight diagnostic problems. For correct diagnosis of skeletal dysplasia, it is important to consider its possibility always in the clinical practice and to collect clinical information appropriately, including those regarding family history. The collect diagnosis would lead to better treatment and care for patients and families.
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN/Japanese Skeletal Dysplasia Consortium.
Shiro
S
Ikegawa
D000293:Adolescent; D000368:Aged; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D024081:Collagen Type IX / Q000235:genetics; D005260:Female; D006621:Hip Joint / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D009154:Mutation; D057089:Pathology, Molecular / Q000379:methods; D011859:Radiography; D055815:Young Adult
C120768:COL9A3 protein, human; D024081:Collagen Type IX