Stuve-Wiedemann syndrome: a case report without
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,
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.