Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: Clues to pathogenesis

Abstract

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. ß

Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives

“…Osteogenesis imperfecta and perinatal and infantile HPP share features of reduced bone density, deficient ossification of the skull vault, bowed long bones, fractures, gracile ribs and narrow thorax (Table 2) [27, 29, 56, 59–61, 64, 65, 71–77]. Although it may be difficult to distinguish osteogenesis imperfecta from HPP on US [27], certain patterns of demineralization may help [61].…”

“…12, 13, 14 and 15), whereas HPP is characterized by a near complete lack of mineralization in individual bones with more densely or normally mineralized adjacent bones [61, 73, 74, 78]. Wormian bones of the skull and compression fractures in the spine are common findings in the majority of cases of severe osteogenesis imperfecta [59, 79] but not in HPP. Demineralization of the skull is usually severe and diffuse in HPP.…”

“…The hand bones are echogenic in osteogenesis imperfecta but are usually sonolucent in HPP [54, 61]. Similar to HPP, in the neonatal period, osteogenesis imperfecta type V may present with reduced bone density, metaphyseal widening/flaring and widening of the growth plates [59]. However, unlike active rickets, the metaphyses are sclerotic and irregular and there may be centrally located wedge-shaped sclerosis of the anterior vertebral bodies and unusual lucency of the metadiaphyseal regions [59].…”

“…However, unlike active rickets, the metaphyses are sclerotic and irregular and there may be centrally located wedge-shaped sclerosis of the anterior vertebral bodies and unusual lucency of the metadiaphyseal regions [59]. …”

“…Shortening, bowing and angulation of the long bones are common characteristics but do not occur in all cases of HPP and are not unique to HPP. Slender, poorly ossified ribs are consistent with but not exclusive to HPP and could be related to gestational age or other conditions, in particular osteogenesis imperfecta [59, 60]. Metaphyseal lucencies or “tongues” are also strongly characteristic of but not exclusive to HPP.…”