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

Détails

ID Serval
serval:BIB_330C8DC88E34
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
Périodique
American Journal of Medical Genetics
Auteur⸱e⸱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
Statut éditorial
Publié
Date de publication
1998
Volume
78
Numéro
2
Pages
146-149
Langue
anglais
Notes
Publication types: Comparative Study ; Journal ArticlePublication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
14/03/2011 16:08
Dernière modification de la notice
20/08/2019 13:18
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