Stuve-Wiedemann syndrome: a case report without osteorosis


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Orbak Z. , Yüce Kahraman Ç. , Orbak R. , Özden A., Tatar A.

58th Annual Meeting of the ESPE , Vienna, Austria, 19 - 21 September 2019, pp.378-379

  • Publication Type: Conference Paper / Summary Text
  • Doi Number: 10.1159/000505087
  • City: Vienna
  • Country: Austria
  • Page Numbers: pp.378-379

Abstract

P2-42

Stuve-Wiedemann syndrome: a case report without

osteorosis

Zerrin Orbak 1, Çiğdem Yüce Kahraman 2, Recep Orbak 3,

Ayşe Özden 1, Abdulgani Tatar 2

1Ataturk University Medical Faculty Department of Pediatric

Endocrinology, Erzurum, Turkey. 2Ataturk University Medical

Faculty Department of Genetics, Erzurum, Turkey. 3Ataturk

University Dental Faculty Department of Periodontology,

Erzurum, Turkey

Stuve-Wiedemann syndrome (SWS) is an autosomal recessive

disorder characterized by bowing of the long bones and other

skeletal anomalies, neuromuscular abnormalities, dysautonomic

symptoms, and respiratory and feeding distress usually resulting

in early death.

We report a girl, aged 6 years, with SWS. We measured bone

mineral density in the lumbar spine, using dual-energy x-ray absorptiometry

(DXA) with a densitometer (Hologic). The result is

expressed as z scores (the number of standard deviations from the

mean value for persons in the general population matched for age,

sex, and race). It was higher than + 2.

Molecular diagnosis was a homozygous mutation in exon 7 of

leukemia inhibitor factor receptor (LIFR) gene located on 5p13-

p12 (c.2074C>T (p.Arg692*)(p.R692*)). Her parents were heterozygous

for this mutation.

Survival beyond the first 3 years in SWS has been reported

limitedly. Our patient is still alive at the age of 6 years.

As far as we know, this is the first case of SWS with spontaneous

fractures without osteoporosis.