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.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Cormier-Daire V,Munnich A,Lyonnet S,Rustin P,Delezoide AL,Maroteaux P,Le Merrer M

doi

10.1007/s002470050464

subject

Has Abstract

pub_date

1998-10-01 00:00:00

pages

776-80

issue

10

eissn

0301-0449

issn

1432-1998

journal_volume

28

pub_type

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