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Stickler Syndrome in a Pedigree of Pierre Robin Syndrome

Richard L. Schreiner, MD; William H. McAlister, MD; Richard E. Marshall, MD; William T. Shearer, MD, PhD
Am J Dis Child. 1973;126(1):86-90. doi:10.1001/archpedi.1973.02110190074016.
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A child with Pierre Robin syndrome had a family history of Stickler syndrome on the father's side and congenital cataracts on the mother's side. Roentgenograms of representatives of five generations showed radiographic evidence of Stickler syndrome which consisted of lateral flattening of the distal tibial epiphysis, wedging and Scheuermann-like changes in the thoracic spine, mandibular and anterior maxillary underdevelopment, and mild generalized spondyloepiphyseal dysplasia.

Radiographic abnormalities were more prevalent than ocular abnormalities and cleft palate in this family, although no major disability was apparent in those persons with osseous abnormalities.

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