title: Presentation of six cases of Stüve-Wiedemann syndrome.
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.
authors.affiliation: Département 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.
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: A L
authors.initials: AL
authors.lastname: Delezoide
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D003680:Deglutition Disorders / Q000151:congenital; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D011859:Radiography; D012131:Respiratory Insufficiency; D013577:Syndrome