Title |
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis
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Published in |
Pediatric Radiology, February 2015
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DOI | 10.1007/s00247-014-3257-9 |
Pubmed ID | |
Authors |
Massimiliano Rossi, Christine M. Hall, Raymonde Bouvier, Sophie Collardeau-Frachon, Frédérique Le Breton, Martine Bucourt, Marie Pierre Cordier, Christine Vianey-Saban, Giancarlo Parenti, Generoso Andria, Martine Le Merrer, Patrick Edery, Amaka C. Offiah |
Abstract |
Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. This study provides an overview of the radiologic features observed in these diseases. A common pattern of limb abnormalities is recognisable, including polydactyly, which is typically post-axial and rarely interdigital and can involve all four limbs, and syndactyly of the toes. Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). The possible occurrence of epiphyseal stippling in the Smith-Lemli-Opitz syndrome, initially reported, does not appear to be confirmed. Stippling is also associated with other congenital disorders such as chromosomal abnormalities, brachytelephalangic chondrodysplasia punctata (X-linked recessive chondrodysplasia punctata, disruptions of vitamin K metabolism, maternal autoimmune diseases), rhizomelic chondrodysplasia punctata (peroxisomal disorders) and lysosomal storage disorders. In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of limb abnormalities indicate inborn errors of cholesterol biosynthesis. We highlight the specific differentiating radiologic features of disorders of post-squalene cholesterol biosynthesis. |
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Country | Count | As % |
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Unknown | 30 | 100% |
Demographic breakdown
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Other | 4 | 13% |
Student > Bachelor | 4 | 13% |
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Researcher | 3 | 10% |
Student > Postgraduate | 3 | 10% |
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Unknown | 6 | 20% |
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Business, Management and Accounting | 1 | 3% |
Other | 1 | 3% |
Unknown | 9 | 30% |