Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
Am J Med Genet
; 78(2): 146-9, 1998 Jun 30.
Article
em En
| MEDLINE
| ID: mdl-9674905
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.
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Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
/
Anormalidades Múltiplas
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article