Abstract
In this study we analysed the imaging patterns in two families containing five members with asymptomatic and uncomplicated autosomal dominant osteopetrosis (ADO II), and we report new and uncommon radiological manifestations. These findings might be useful in the context of reducing the incidence of fractures and other orthopaedic complications. Diffuse pelvic sclerosis on radiographs was observed incidentally in two patients. Both cases were asymptomatic, and the patients had never suffered a fracture. The suggestion of ADO II was raised. A detailed medical history, an imaging survey, and a haematological study were obtained so that other rare causes of osteosclerosis could be ruled out. No genetic study was conducted. All their first-degree relatives were also examined. Bony sclerosis was observed in five patients, and the radiological findings were analysed. A not previously reported thickening of the skull base without cranial nerve palsy or optic nerve atrophy was revealed in all patients. Scoliosis was present in three of them. This has been reported previously only once in ADO II. No lower limb deformity was detected. This study provided information on the pattern of radiological features in familial asymptomatic ADO II. These data on new and rare imaging findings will increase the diagnostic awareness of physicians and will guide a thorough investigation of the entire family. This might result in a consequent decrease in the incidence of fractures and other orthopaedic complications.
Similar content being viewed by others
References
Elster AD, Theros EG, Key LL, Chen MY. Cranial imaging in autosomal recessive osteopetrosis. Part I. Facial bones and calvarium. Radiology. 1992;183:129–35.
Bollerslev J. Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects. Endocr Rev. 1989;10:45–67.
Bollerslev J. Osteopetrosis. A genetic and epidemiological study. Clin Genet. 1987;31:86–90.
Bollerslev J, Andersen PE Jr. Fracture patterns in two types of autosomal-dominant osteopetrosis. Acta Orthop Scand. 1989;60:110–2.
Bollerslev J, Grontved A, Andersen PE Jr. Autosomal dominant osteopetrosis: an otoneurological investigation of the two radiological types. Laryngoscope. 1988;98:411–3.
Frager DH, Subbarao K. The ‘bone within a bone’. JAMA. 1983;249:77–9.
Juggins KJ, Walton GM, Patel M. Osteomyelitis complicating osteopetrosis—a case report. Dent Update. 2001;28:509–11.
El-Tawil T, Stoker DJ. Benign osteopetrosis: a review of 42 cases showing two different patterns. Skeletal Radiol. 1993;22:587–93.
Bénichou OD, Laredo JD, de Vernejoul MC. Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients. Bone. 2000;26:87–93.
Milgram JW, Jasty M. Osteopetrosis. A morphological study of twenty-one cases. J Bone Joint Surg Am. 1982;64:912–29.
Johnston CC Jr, Lavy N, Lord T, Vellios F, Merritt AD, Deiss WP Jr. Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine (Baltimore). 1968;47:149–67.
Barry CP, Ryan CD. Osteomyelitis of the maxilla secondary to osteopetrosis: report of a case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2003;95:12–15.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Fotiadou, A., Arvaniti, M., Kiriakou, V. et al. Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease. Skeletal Radiol 38, 1015–1021 (2009). https://doi.org/10.1007/s00256-009-0718-6
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00256-009-0718-6