Swellings over the upper and lower limbs were encountered in a one-year-old child. Skeletal survey showed a constellation of distinctive radiographic abnormalities of osteoporosis, hyperplastic callus and ossification of the interosseous membrane of the forearm, femora, and to lesser extent the tibiae. Neither wormian bones of the skull nor dentinogenesis imperfecta was present. Genetic tests revealed absence of mutation in COL1A1 or COL1A2 genes, respectively. The overall phenotypic features were consistent with the diagnosis of osteogenesis imperfecta type V (OI-V). The aim of this paper is to distinguish between swellings because of intrinsic bone disorders and these due to child physical abuse. 1. Introduction Osteogenesis imperfecta is a heritable disorder characterized by bone fragility, deformity of the spine, and long bones. Additional abnormalities such as short stature, blue sclera, and dentinogenesis imperfecta have been described. Skeletal manifestations are due to a generalized deficiency of development of both membranous and endochondral bone and include markedly thinned calvarium with delayed closure of fontanelle and sutures and excessive wormian bone formation. Sillence et al. [1] developed a classification of OI subtypes: OI type I with blue sclerae; perinatal lethal OI type II, also known as congenital OI; OI type III, a progressively deforming form with normal sclera; and OI type IV, with normal sclerae. Levin et al. [2] suggested that OI subtypes could be further divided into types A and B based on the absence or presence of dentinogenesis imperfecta. In the large majority of patients with OI types I–IV, the disease is caused by mutation in the two genes that encode collagen type I alpha chains. Such mutations are absent in OI types V–VII. OI type V is characterized radiologically by interosseous membrane calcification of the forearms and a radiodense band visualised at the growth plate [3]. Patients with OI type V do not have blue sclera or dentinogenesis imperfecta. The aim of this paper is to further delineate the phenotypic characterization of osteogenesis imperfecta type V. 2. Clinical Report A-one-year-old boy was referred to our department for clinical evaluation. Progressive upper and lower limbs swellings have been noted since birth and were an unpleasant dilemma for the parents and the paediatrician. The child was a product of uneventful gestation. At birth his length, weight, and ofc were around the 25th percentile. The mother was a 28-year-gravida one-abortus 0 married to a 32-year-old unrelated man. Family history was
References
[1]
D. O. Sillence, A. Senn, and D. M. Danks, “Genetic heterogeneity in osteogenesis imperfecta,” Journal of Medical Genetics, vol. 16, no. 2, pp. 101–116, 1979.
[2]
L. S. Levin, C. F. Salinas, and R. J. Jorgenson, “Classification of osteogenesis imperfecta by dental characteristics,” The Lancet, vol. 1, no. 8059, pp. 332–333, 1978.
[3]
F. H. Glorieux, F. Rauch, H. Plotkin et al., “Type V osteogenesis imperfecta: a new form of brittle bone disease,” Journal of Bone and Mineral Research, vol. 15, no. 9, pp. 1650–1658, 2000.
[4]
J. Caffey, “Infantile cortical hyperostosis; a review of the clinical and radiographic features,” Proceedings of the Royal Society of Medicine, vol. 50, no. 5, pp. 347–354, 1957.
[5]
A. Al Kaissi, G. Petje, V. De Brauwer, F. Grill, and K. Klaushofer, “Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the literature,” Cases Journal, vol. 2, no. 2, article 133, 2009.
[6]
C. D. Constantinou, M. Pack, S. B. Young, and D. J. Prockop, “Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for α1-glycine 904 in a type I procollagen gene (COL1A1),” The American Journal of Human Genetics, vol. 47, no. 4, pp. 670–679, 1990.
[7]
P. J. Roughley, F. Rauch, F. H. Glorieux, W. Hofstetter, and M. Alini, “Osteogenesis imperfecta—clinical and molecular diversity,” European Cells and Materials, vol. 5, pp. 41–47, 2003.
[8]
T. J. T. M. Garretsen and C. W. R. J. Cremers, “Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I,” Annals of the New York Academy of Sciences, vol. 630, pp. 240–248, 1991.
[9]
P. E. Andersen Jr. and M. Hauge, “Osteogenesis imperfecta: a genetic, radiological, and epidemiological study,” Clinical Genetics, vol. 36, no. 4, pp. 250–255, 1989.
[10]
J. W. Spranger, P. W. Brill, and A. Poznanski, Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development, Oxford University Press, New York, NY, USA, 2002.
[11]
M. S. Cheung, E. M. Azouz, F. H. Glorieux, and F. Rauch, “Hyperplastic callus formation in osteogenesis imperfecta type V: follow-up of three generations over ten years,” Skeletal Radiology, vol. 37, no. 5, pp. 465–467, 2008.
[12]
W. H. Battle and S. G. Shattock, “A remarkable case of diffuse cancellous osteoma of the femur following a fracture, in which similar growths afterwards developed in connection with other bones,” Proceedings of the Royal Society of Medicine, vol. 1, pp. 83–114, 1908.
[13]
R. E. Brenner, U. Vetter, A. Nerlich, O. Worsdorfer, W. M. Teller, and P. K. Muller, “Biochemical analysis of callus tissue in osteogenesis imperfecta type IV. Evidence for transient overmodification in collagen types I and III,” Journal of Clinical Investigation, vol. 84, no. 3, pp. 915–921, 1989.
[14]
T. J. Cho, K. E. Lee, S. K. Lee, et al., “A single recurrent mutation in the 5-UTR of IFTM5 causes osteogenesis imperfect typr V,” The American Journal of Human Genetics, vol. 91, no. 2, pp. 343–348, 2012.
