Stuve-Wiedemann syndrome: a case report without osteorosis
Özet
P2-42<o:p></o:p>
Stuve-Wiedemann syndrome: a case report without<o:p></o:p>
osteorosis<o:p></o:p>
Zerrin Orbak 1, Çiğdem Yüce Kahraman 2, Recep Orbak 3,<o:p></o:p>
Ayşe Özden 1, Abdulgani Tatar 2<o:p></o:p>
1Ataturk University Medical Faculty Department
of Pediatric<o:p></o:p>
Endocrinology, Erzurum, Turkey. 2Ataturk
University Medical<o:p></o:p>
Faculty Department of Genetics, Erzurum,
Turkey. 3Ataturk<o:p></o:p>
University Dental Faculty Department of
Periodontology,<o:p></o:p>
Erzurum, Turkey<o:p></o:p>
Stuve-Wiedemann
syndrome (SWS) is an autosomal recessive<o:p></o:p>
disorder
characterized by bowing of the long bones and other<o:p></o:p>
skeletal
anomalies, neuromuscular abnormalities, dysautonomic<o:p></o:p>
symptoms,
and respiratory and feeding distress usually resulting<o:p></o:p>
in
early death.<o:p></o:p>
We
report a girl, aged 6 years, with SWS. We measured bone<o:p></o:p>
mineral
density in the lumbar spine, using dual-energy x-ray absorptiometry<o:p></o:p>
(DXA)
with a densitometer (Hologic). The result is<o:p></o:p>
expressed
as z scores (the number of standard deviations from the<o:p></o:p>
mean
value for persons in the general population matched for age,<o:p></o:p>
sex,
and race). It was higher than + 2.<o:p></o:p>
Molecular
diagnosis was a homozygous mutation in exon 7 of<o:p></o:p>
leukemia
inhibitor factor receptor (LIFR) gene located on 5p13-<o:p></o:p>
p12
(c.2074C>T (p.Arg692*)(p.R692*)). Her parents were heterozygous<o:p></o:p>
for
this mutation.<o:p></o:p>
Survival
beyond the first 3 years in SWS has been reported<o:p></o:p>
limitedly.
Our patient is still alive at the age of 6 years.<o:p></o:p>
As
far as we know, this is the first case of SWS with spontaneous<o:p></o:p>
fractures without osteoporosis.
Atıf için künye
Orbak, Z., Yüce Kahraman, Ç., Orbak, R., Özden, A., & Tatar, A. (2019). Stuve-Wiedemann syndrome: a case report without osteorosis. 58th Annual Meeting of the ESPE, Vienna (ss. 378–379). https://doi.org/10.1159/000505087
BibTeX
@inproceedings{orbak2019-14106,
author = {Orbak, Zerrin and Yüce Kahraman, Çiğdem and Orbak, Recep and Özden, Ayşe and Tatar, Abdulgani},
title = {Stuve-Wiedemann syndrome: a case report without osteorosis},
booktitle = {58th Annual Meeting of the ESPE},
address = {Vienna},
year = {2019},
pages = {378--379},
doi = {10.1159/000505087},
url = {https://akademik.atauni.edu.tr/yayinlar/14106-stuve-wiedemann-syndrome-a-case-report-without-osteorosis}
}