Heterogeneity of autosomal dominant osteopetrosis.

Abstract

A review of the radiographs of 26 patients with autosomal dominant osteopetrosis disclosed two distinct and strictly family-related radiographic types. Both types had universal osteosclerosis. In type 1 the most striking finding was pronounced sclerosis of the cranial vault while the spine was almost unaffected. In type 2 the sclerosis of the skull was most pronounced at the base, the vertebrae always had end-plate thickening, and in the pelvis the iliac wings contained convex arcs of sclerotic bone. Age and sex distribution did not differ between the types. Autosomal dominant osteopetrosis may be a heterogeneous group of inherited bone disorders.

Genetics in Endocrinology: Autosomal dominant osteopetrosis revisited: lessons from recent studies

“…However, also within ADO, a systematic search for the disease revealed radiographic heterogeneity (8). Based on several families with ADO from the county of Funen, Denmark, in the mid-1980s, we described two distinct radiological forms based on plain radiographs (8). Further studies characterizing ADO at the clinical, biochemical, histological, and biomechanical levels revealed that these types corresponded to two distinct disorders, which we designated as ADO type 1 (ADO1) and ADO2 (9,10,11,12,13).…”

“…However, also within ADO, a systematic search for the disease revealed radiographic heterogeneity (8). Based on several families with ADO from the county of Funen, Denmark, in the mid-1980s, we described two distinct radiological forms based on plain radiographs (8).…”

Fracture patterns in two types of autosomal-dominant osteopetrosis

“…Of the 12 probands who had had a fracture, 2/20 were Type I and 10/15 were Type 11. Fracture complications were also more frequent in Type IT Within the autosomal-dominant form of osteopetrosis, two distinct and strictly family-related radiographic types have recently been described (Andersen and Bollerslev 1987).Themost striking~ndinginTypeIis pronounced sclerosis of the cranial vault (Figure l), whereas"Rugger Jersey Spine" (Figure 2) and endobones (bone within a bone) in the pelvis are characteristic findings in Type 11. Both types show radiographic signs of defective bone resorption (Bollerslev and Andersen 1988).…”

Multimodality Imaging of Osteopetrosis

“…The Incidence of most frequent patterns among is autosomal recessive osteopetrosis (ARO) 1 in 250, 000 births, and autosomal dominant osteopetrosis (ADO) 1 in 20, 000 births. 1,2 Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications (classic or "malignant" ARO), to the incidental finding of osteopetrosis on radiographs (ADO)and mild form of autosomal recessive osteopetrosis (mild ARO/intermediate OP) a more uncommon form of the disease. However, this variant tends to present later in childhood than the more malignant form.…”

“…Frequently IOP is distinguished from the malignant form only when a milder clinical course evolves with age. [1][2][3][4][5] Plain radiography and sectional imaging in particular magnetic resonance imaging (MRI) plays important role in the diagnosis of the osteopetrosis and its subtypes. 6,7,8 CASE REPORT: A seven year old male child from a family of lower socio-economic group with a history of abdominal distension and fever since three months and a clinical diagnosis of thalassemia major referred for further investigation to the department of Radiology of Vydehi hospital.…”