scholarly journals Parental perceptions of bladder dysfunction in children with symptomatic joint hypermobility

Author(s):  
Marianna Veriki ◽  
Annette Coomer ◽  
Jane V. Simmonds
2020 ◽  
Vol 13 (2) ◽  
pp. e231977
Author(s):  
Margarida Cunha ◽  
Mafalda Matias ◽  
Inês Marques

Ehlers-Danlos syndrome (EDS), hypermobility type, is probably the most common EDS type, as well as the most common heritable connective tissue disorder. Bladder dysfunction is a rare clinical manifestation of EDS and manifests itself as primary nocturnal enuresis. We present a 10-year-old boy referred to the paediatrics nephrology consultation due to primary nocturnal enuresis and day time symptoms of urinary urgency. During the appointment, a tendency to joint hypermobility was noted. On evaluation the skin was hyperextensible and the Beighton score was positive. The genetic testing revealed a variant of the COL5A1 gene not yet described in the literature.


2007 ◽  
Vol 177 (4S) ◽  
pp. 329-329
Author(s):  
You Satoji ◽  
Masaki Yoshida ◽  
Yoshihiro Maeda ◽  
Koichi Masunaga ◽  
Takushi Nagata ◽  
...  

2000 ◽  
Vol 4 (2) ◽  
pp. 118-122 ◽  
Author(s):  
P Lopez Pereira ◽  
E. Jaureguizar ◽  
M. J Martinez Urrutia ◽  
C Meseguer ◽  
M Navarro

2007 ◽  
Author(s):  
Angela R. Coles ◽  
Kenneth I. Pakenham ◽  
Christine Leech

2005 ◽  
Vol 32 (06) ◽  
Author(s):  
K Winge ◽  
H Stimpel ◽  
KK Nielsen ◽  
L Friberg ◽  
L Werdelin

2017 ◽  
Vol 96 (1) ◽  
pp. 209-211
Author(s):  
I. A. Korsunskiy ◽  
N. B. Guseva ◽  
E. Y. Gatkin ◽  
A. A. Korsunskiy ◽  
L. A. Fedorova ◽  
...  

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