Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis.
We present the first report of the development of characteristic radiologic appearances of long bones during the first year of life in an infant with type V osteogenesis imperfecta (OI). We show the evolution of metaphyseal abnormalities from a rickets-like appearance to the classically described dense metaphyseal bands. These abnormalities suggest that the underlying defect in type V OI may involve a molecule common to both bone and cartilage that is involved in the regulation of growth plate development and metadiaphyseal ossification. Our findings provide new insights into skeletal development in type V OI and potentially yield useful clues to the identity of the defect underpinning the condition.
Arundel
Paul
P
Academic Unit of Child Health, University of Sheffield, and Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom. P.Arundel@sheffield.ac.uk
Offiah
Amaka
A
Bishop
Nicholas J
NJ
D050280:Arm Bones / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging / Q000473:pathology; D055762:Cranial Fontanelles / Q000002:abnormalities / Q000473:pathology; D004164:Diphosphonates / Q000627:therapeutic use; D005260:Female; D005264:Femoral Fractures / Q000473:pathology; D005333:Fetus / Q000002:abnormalities / Q000473:pathology; D005360:Fibula / Q000002:abnormalities / Q000473:pathology; D050723:Fractures, Bone / Q000000981:diagnostic imaging / Q000473:pathology; D006132:Growth Plate / Q000002:abnormalities / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007867:Leg Bones / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D008137:Longitudinal Studies; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology / Q000473:pathology; D000077268:Pamidronate; D059041:Plagiocephaly / Q000473:pathology; D011859:Radiography; D012253:Rib Fractures / Q000000981:diagnostic imaging / Q000473:pathology; D012272:Ribs / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D013977:Tibia / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D014457:Ulna / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D016216:Ultrasonography, Prenatal; D014807:Vitamin D / Q000627:therapeutic use
D050071:Bone Density Conservation Agents; D004164:Diphosphonates; D014807:Vitamin D; D000077268:Pamidronate