Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

Details

Serval ID
serval:BIB_330C8DC88E34
Type
Article: article from journal or magazin.
Collection
Publications
Title
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
Journal
American Journal of Medical Genetics
Author(s)
Cormier-Daire V., Superti-Furga A., Munnich A., Lyonnet S., Rustin P., Delezoide A.L., De Lonlay P., Giedion A., Maroteaux P., Le Merrer M.
ISSN
0148-7299 (Print)
ISSN-L
0148-7299
Publication state
Published
Issued date
1998
Volume
78
Number
2
Pages
146-149
Language
english
Notes
Publication types: Comparative Study ; Journal ArticlePublication Status: ppublish
Abstract
The Stüve-Wiedemann syndrome (SWS) is a rare disorder characterized by respiratory distress, hyperthermic episodes, and early lethality and radiologically by bowing of the long bones with internal cortical thickening and large metaphyses. We report findings in 8 new patients suggesting that this syndrome is clinically homogeneous. All patients had feeding and swallowing difficulties, respiratory insufficiency, abnormal appearance, muscle hypotonia, and postnatal short stature. Recurrent episodes of unexplained fever occurred in all and were the cause of death in 6 of 8 cases. Parental consanguinity and sib recurrence suggest autosomal recessive inheritance. The clinical, radiological, and histological similarities between our patients with SWS and those with the recently delineated "neonatal" Schwartz-Jampel syndrome (SJS type 2) lead us to suggest that SWS and SJS type 2 may be a single entity.
Keywords
Abnormalities, Multiple/pathology, Abnormalities, Multiple/physiopathology, Female, Humans, Infant, Newborn, Male, Muscle Hypotonia/pathology, Muscle Hypotonia/physiopathology, Osteochondrodysplasias/pathology, Osteochondrodysplasias/physiopathology, Respiratory Insufficiency/pathology, Respiratory Insufficiency/physiopathology, Syndrome
Pubmed
Web of science
Create date
14/03/2011 16:08
Last modification date
20/08/2019 13:18
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