A Novel Syndrome With Dwarfism, Poorly Muscled Build, Absent Clavicles, Humeroradial Fusion, Slender Bones, Oligodactyly And Micrognathia

L Faivre, V Cormier-Daire,D Geneviève, G Pinto,O Goulet,A Munnich,P Maroteaux,M Le Merrer

CLINICAL DYSMORPHOLOGY(2001)

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摘要
We report on a 15-year-old girl with severe pre- and post-natal growth retardation, poorly muscled build, micrognathia, ulnar ray oligodactyly; absent clavicles, abnormal scapulae, humeroradial fusion, hip dislocation, small iliac wings, slender tubular bones and normal intelligence. An extensive search has failed to ascribe this association to a known condition. This child shared some clinical and radiological features with the Yunis-Varon syndrome but the normal intelligence and the ulnar ray oligodactyly of our patient does not support this diagnosis. Clin Dysmorphol 10: 181-184 (C) 2001 Lippincott Williams & Wilkins.
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absent clavicles, humeroradial fusion, slender tubular bones, ulnar ray oligodactyly, micrognathia
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