title: Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
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.
authors: Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France.
authors: Massimiliano
authors: M
authors: Rossi
authors: Christine M
authors: CM
authors: Hall
authors: Raymonde
authors: R
authors: Bouvier
authors: Sophie
authors: S
authors: Collardeau-Frachon
authors: Frédérique
authors: F
authors: Le Breton
authors: Martine
authors: M
authors: Bucourt
authors: Marie Pierre
authors: MP
authors: Cordier
authors: Christine
authors: C
authors: Vianey-Saban
authors: Giancarlo
authors: G
authors: Parenti
authors: Generoso
authors: G
authors: Andria
authors: Martine
authors: M
authors: Le Merrer
authors: Patrick
authors: P
authors: Edery
authors: Amaka C
authors: AC
authors: Offiah
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000096:biosynthesis*; D005260:Female; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications*; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000150:complications* / Q000000981:diagnostic imaging*; D009141:Musculoskeletal System / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D055815:Young Adult
chemical_list: D002784:Cholesterol
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