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  • Title: An autosomal recessive variant of spondylo-epiphyseal dysplasia in three sibs.
    Author: Pfeiffer RA, Suess J, Haagen M.
    Journal: Pediatr Radiol; 1992; 22(2):83-6. PubMed ID: 1501956.
    Abstract:
    A report of one male and two female sibs with an unusual form of spondylo-epiphyseal dysplasia (SED) manifesting in late childhood. The anomalies are pronounced at the femoral head. There is platyspondyly with biconcave deformation and irregular vertebral end-plates. As the parents are healthy autosomal recessive inheritance is likely.
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