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Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive condition which represents a complex of symptoms and laboratory findings with unknown cause and pathogenesis. Approximately 30 patients with WRS have been reported. We report here two newborns with WRS from Turkey with clinical and laboratory findings including bone marker evaluation. Our two patients had characteristic features of WRS, including intrauterine growth retardation, aged appearance, near absence of subcutaneous fat, gluteal fat pads, also labial pad in the first infant, wrinkled thin skin, sparse scalp hair, prominent scalp veins and facial dysmorphism. They also have severe osteopenia and elevated urinary deoxypyridinoline levels which have not been previously described in patients with WRS. Impaired lipid and hormone profiles including elevated prolactin and triglyceride level have been reported in patients with WRS. Our first patient also has excessive joint contractures, persisting thrombocytosis and rectal prolapse. We evaluated bone mineral findings in our two patients with WRS and recommend caution when handling children with WRS.

journal of pediatric endocrinology and metabolism

Clinical and Laboratory Findings of Two Newborns with Wiedemann-Rautenstrauch Syndrome: Additional Features, Evaluation of Bone Turnover and Review of the Literature