38 Dysosteosclerosis
Short stature, narrow midface, osteosclerosis, cranial nerve compression, increased bone fragility, dental anomalies
Frequency: Rare.
Genetics
Autosomal recessive (OMIM 224300), X-linked reces- sive inheritance suggested in some families.
Clinical Features
• Narrow midface, narrow chin
• Micrognathia
• Short stature
• Progressive psychomotor retardation
• Deficit of cranial nerves (reduced visual acuity, facial palsy, abducens palsy)
• Abnormal teeth (oligodontia, late eruption, premature loss of teeth
• Progressive otosclerosis
• Flattened fingernail
• Fractures due to bone fragility
• Anemia
• Visceromegaly
Differential Diagnosis
• Osteopetrosis infantile, and benign adult
• Pyknodysostosis
Radiographic Features Skull
• Thickening and sclerosis of the skull base and cranial vault
• Sclerosis of the orbital roofs
• Decreased or absent pneumatization of paranasal sinuses and mastoids
• Narrow optic canal and other cranial foramina
• Intracranial calcifications
Dysosteosclerosis 690
Fig. 38.1. Patient 1, at age 5 years and 6 months. The skull base is abnormally dense, whereas the calvarium is only mildly thickened. Note sclerotic mastoids and absence of paranasal sinus pneumatization. (Reprinted, with permission, from Greenspan 1991)
Fig. 38.2. Patient 1, at age 15 years. The vertebral bodies in the thoracic spine are flattened, anteriorly concave, and irregular- ly dense. (Reprinted, with permission, from Greenspan 1991)
Chest
• Sclerosis of ribs, sternum, clavicles and scapulae
• Short and thick ribs
• Pectus carinatum Spine
• Sclerosis of vertebral bodies
• Platyspondyly
• End plate irregularities Pelvis
• Sclerosis of pelvic bones
• Small ilia Extremities
• Shortening of tubular bones
• Metaphyseal flaring of tubular bones (club-shaped)
• Sclerosis of epiphyses, middle portions, and meta- physes of tubular bones
• Increased radiolucency and coarse trabecular structure of the widened submetaphyseal regions with thin cortices
• Sclerosis of carpal and tarsal bones
• Phalangeal tuft resorption
Generalized Bone Defects
• Bone fragility, multiple fractures
Bibliography
Chitayat D, Silver K, Azouz EM. Skeletal dysplasia, intracere- bral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis. Am J Med Genet 1992; 43: 517–23
Gorlin RJ. Craniotubular bone disorders. Pediatr Radiol 1994;
24: 392–406
Greenspan A. Sclerosing bone dysplasias–a target-site ap- proach. Skeletal Radiol 1991; 20: 561–83
Houston CS, Gerrard JW, Ives EJ. Dysosteosclerosis. Am J Roentgenol 1978; 130: 988–91
John E, Kozlowski K, Masel J, Muralinath S, Vijayalakshmi G.
Dysosteosclerosis. Australas Radiol 1996; 40: 345–7 Spranger JW, Albrecht C, Rohwedder HJ, Wiedemann HR. Die
Dysosteosklerose: eine Sonderform der generalisierten Osteosklerose. Fortschr Roentgenstr 1968; 109: 504–12
Dysosteosclerosis 691
D
Fig. 38.3. aPatient 1, at 20 months.
Note metaphyseal widening with dense metaphyseal bands. b Pa- tient 1, at 5 years and 6 months.
Note irregular densities and lack of modeling. c Patient 1, at 15 years. The distal femur shows more advanced Erlenmeyer flask deformity with thin cortex.
(Reprinted, with permission, from Greenspan 1991. The original cas- es are described in Houston et al.
1978)
a b c
