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Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

Overview of attention for article published in Pediatric Radiology, February 2015
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Title
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis
Published in
Pediatric Radiology, February 2015
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.

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 3 17%
Student > Bachelor 3 17%
Professor 2 11%
Professor > Associate Professor 2 11%
Researcher 2 11%
Other 6 33%
Readers by discipline Count As %
Medicine and Dentistry 11 61%
Unspecified 2 11%
Biochemistry, Genetics and Molecular Biology 2 11%
Agricultural and Biological Sciences 2 11%
Business, Management and Accounting 1 6%
Other 0 0%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 10 February 2015.
All research outputs
#10,837,667
of 12,226,394 outputs
Outputs from Pediatric Radiology
#896
of 1,096 outputs
Outputs of similar age
#223,408
of 273,923 outputs
Outputs of similar age from Pediatric Radiology
#26
of 32 outputs
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We're also able to compare this research output to 32 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.