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Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. 2003
Georg Hülskamp, and
Dagmar Wieczorek, and
Harald Rieder, and
Frank Louwen, and
Isabell Hörnig-Franz, and
Christian H Rickert, and
Jürgen Horst, and
Erik Harms, and
Helga Rehder
Klinik und Poliklinik für Kinderheilkunde--Allgemeine Kinderheilkunde, Westfälische Wilhelms-Universität, Münster, Germany. g.hulskamp@ich.ucl.ac.uk
We describe three affected sibs with Raine syndrome born to a consanguineous Turkish couple. Clinical findings and post-mortem assessment are presented. We have added previously unreported meso and severe telebrachyphalangy and urogenital anomalies to the clinical spectrum. Appositional new bone formation may be mistaken for fractures and callus formation--both prenatally by ultrasound and postnatally in radiographs. Further research is required to detect the underlying metabolic and molecular defects of this autosomal recessive syndrome.
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