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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...
Paternal uniparental disomy for chromosome 14 (patUPD14) is a rare condition, this being the eighth report. A male infant, born prematurely, was noted to have extremely lax skin and bilateral inguinal hernias. Skin biopsy confirmed the clinical diagnosis of congenital cutis laxa, but this did not explain the limb abnormalities. Radiographic findings (particularly the coat-hanger configuration of the...
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