© 2002 Journal of Medical Genetics
LETTER TO JMG
Dysosteosclerosis: a report of three new cases and evolution of the radiological findings
1 Department of Paediatric Genetics, Marmara University Hospital, 81190 Istanbul, Turkey
2 Metabolic Unit, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK
3 Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK
Correspondence to:
Correspondence to:
Dr C M Hall, Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK;
hallc@gosh.nhs.uk
Keywords: dysosteosclerosis; bone dysplasia; radiological findings
| The first 150 words of the full text of this article appear below. |
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
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