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Dysosteosclerosis: a report of three new cases and evolution of the radiological findings
  1. N H Elçioglu1,
  2. A Vellodi2,
  3. C M Hall3
  1. 1Department of Paediatric Genetics, Marmara University Hospital, 81190 Istanbul, Turkey
  2. 2Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK
  3. 3Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK
  1. Correspondence to:
 Dr C M Hall, Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK;

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We present three patients with dysosteosclerosis with clinical and radiographic changes ranging from birth to 14 years. Dysosteosclerosis (MIM 224300) is a rare bone dysplasia associated with neurodevelopmental deterioration. There is sclerosis and platyspondyly with progressive metaphyseal expansion and alteration of bone density. The early craniotubular bone modelling and clinical presentation resemble osteopetrosis. It was first delineated by Spranger et al1 in 1968. Prognosis is poor. In addition to neurological and psychological deterioration, the children have delayed milestones and are probably retarded from the beginning. They have dysmorphic features with a round face, sagging cheeks, and a prominent forehead. Dentition is abnormal. Optic atrophy from cranial nerve compression develops early and some have fits, even status epilepticus. Skin changes occur in some and consist of red-violet spots over the entire body, with a patchy distribution.2 There is sclerosis of the skull base, the ribs (which are wide), clavicles, scapulae, and mid-diaphyses. The metaphyses show progressive expansion and, as in the spine, develop sclerotic islands in areas of relative radiolucency. There is mild platyspondyly with wide intervertebral spaces. The vertebral bodies are small with irregular end plates and pronounced anterior notches. The tubular bones are short with progressive bowing and fractures are a complication.3–5 Inheritance is usually autosomal recessive but a large X linked pedigree has been described.6


Case 1

Case 1 is a 14 year old Asian girl with short stature and limb deformities. She is blind and mentally retarded without any useful speech. Her weight was 28.2 kg (<3rd centile) and her height was 118.5 cm (<3rd centile). Her parents were healthy and not consanguineous. They have two other children who are alive and well but had a further affected boy (case 2).

She was a term (42 weeks) normal delivery, weighed 3400 g, and was …

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