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Presentation of six cases of Stüve-Wiedemann syndrome
V Cormier-Daire1, A Munnich, S Lyonnet
1Département de Génétique et Unité, de Recherches sur les Handicaps, Génétiques de l'Enfant, Hôpital des Enfants Malades, 149 rue de Sèvres, 75743 Paris cedex 15, France.
Abstract:
Stüve-Wiedemann syndrome (SWS) is a rare disorder characterized by bowing of the long bones, camptodactyly, respiratory distress, hyperthermic episodes and early lethality. We report six additional cases of SWS, suggesting that this syndrome is homogeneous. All patients had feeding and swallowing difficulties, respiratory insufficiency, dysmorphic features and radiolucent metaphyses with abnormal trabecular pattern. Recurrent episodes of unexplained fever was the cause of death in almost all cases. Parental consanguinity and recurrence in sibs is highly suggestive of autosomal recessive inheritance.
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