Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology

Mikelonis, Dawn; Jorcyk, Cheryl L.; Tawara, Ken; Oxford, Julia Thom

doi:10.1186/1750-1172-9-34

Cited by 36 publications

(49 citation statements)

References 121 publications

(184 reference statements)

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“…There is progressive bowing of the long bones ( fig. 1 A [Mikelonis et al, 2014]. At a later stage, luxations of the patellae occur [Gaspar et al, 2008;Jung et al, 2010].…”

Section: Muscular and Skeletal Findingsmentioning

confidence: 99%

“…Although motor development is delayed, cognitive impairment is not a feature [Mikelonis et al, 2014].…”

Section: Clinical Findings Course and Managementmentioning

confidence: 99%

“…Temperature instability remains, and there is excessive and sometimes paradoxical sweating [Mikelonis et al, 2014].…”

Section: Dysautonomiamentioning

confidence: 99%

“…Bonthuis et al [2009] reported the use of sevoflurane with no complications in 6 anesthetic procedures in the same patient. SWS individuals also present with reduced pain sensation and reduced or absent patellar reflex [Mikelonis et al, 2014].…”

Section: Dysautonomiamentioning

confidence: 99%

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Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Bertola

Honjo

Baratela³

2016

Mol Syndromol

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Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory factor receptor gene (LIFR) -, natural history and management possibilities. This review aims to highlight the clinical aspects, radiological features, molecular findings, and management strategies in Stüve-Wiedemann syndrome.

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“…There is progressive bowing of the long bones ( fig. 1 A [Mikelonis et al, 2014]. At a later stage, luxations of the patellae occur [Gaspar et al, 2008;Jung et al, 2010].…”

Section: Muscular and Skeletal Findingsmentioning

confidence: 99%

“…Although motor development is delayed, cognitive impairment is not a feature [Mikelonis et al, 2014].…”

Section: Clinical Findings Course and Managementmentioning

confidence: 99%

“…Temperature instability remains, and there is excessive and sometimes paradoxical sweating [Mikelonis et al, 2014].…”

Section: Dysautonomiamentioning

confidence: 99%

Section: Dysautonomiamentioning

confidence: 99%

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Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Bertola

Honjo

Baratela³

2016

Mol Syndromol

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“…Diastrophic dysplasia is a form of dwarfism characterized by shortening of limbs, deformities of spine, contractures of joints, hitchhiker's thumb. The last feature is pathognomonic for diastrophic dysplasia and its absence in our case allows the exclusion [15][16][17].…”

Section: Case Reportmentioning

confidence: 99%

Campomelic dysplasia with dextrocardia and without sex-reversal

Păvăloaia¹,

Resmeriţă²,

Augustin³

et al. 2017

Arch Clin Cases

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Campomelic dysplasia (CD) is a very rare, sporadic, autosomal dominant syndrome. CD is characterized by an association of skeletal (bowed long bones, pelvis and chest abnormalities, eleven rib pairs) and extraskeletal abnormalities (facial dysmorphism, sex-reversal in boy and visceral malformations). We report a case of a 3 days old male diagnosed by CD. At birth, the boy displayed severe asphyxia and therefore needed intensive care. Physical examination revealed short stature, a craniofacial dysmorphism, cleft palate, muscle hypotonia, skeletal anomalies (chest hypoplasia, curved short upper and lower limbs, talipes equinovarus) cardiac malformations, normal male genitalia. The X-ray examination showed bell-shaped, narrow thoracic cage, hypoplastic scapulae, reduced cranial, pelvic, tibial and fibular ossification, absence of nasal and sternal ossification, cervical kyphosis, 11 pairs of ribs, flat and short vertebral bodies, short humerus with widened distal epiphysis, anterolateral femoral and tibial bowing and ankle valgus deformity. Dextrocardia was identified on X-ray examination and on echocardiography. Karyotype was 46,XY. The particularities of cases are campomelic dysplasia with dextrocardia, but without sex-reversal.

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Stuve–Wiedemann syndrome: Is it underrecognized?

Yeşil

Lèbre

Santos

et al. 2014

American J of Med Genetics Pt A

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Stuve-Wiedemann Syndrome (SWS) (OMIM #601559) is an autosomal recessive disorder characterized by skeletal changes, bowing of the lower limb, severe osteoporosis and joint contractures, episodic hyperthermia, frequent respiratory infections, feeding problems and high mortality in early life. It is caused by mutation in the leukemia inhibitory factor receptor gene (LIFR; 151443) on chromosome 5p13. We provide the clinical follow-up and molecular aspects of six new patients who carried the same novel mutation in the LIFR gene (p.Arg692X) and three patients carried a common haplotype at the LIFR locus supporting a founder effect in the Turkish population. The probable pathogenesis of the features is also discussed. Osseous findings in the presence of other above-mentioned morbid conditions should raise the suspicion of SWS in neonates especially in Arabic and Eastern Mediterranean countries with high rate of consanguineous marriages like in Turkey. Severe osteoporosis, bone deformities, milias, leukocoria, inflammatory lesions on distal extremities, tongue biting behavior and oral ulcers could be more prominent features of the survivors beyond the neonatal period while respiratory and feeding problems are remitting. It is of crucial importance to diagnose such babies earlier in order to prevent extensive laboratory workup and to provide proper genetic counseling.

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Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology

Cited by 36 publications

References 121 publications

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Campomelic dysplasia with dextrocardia and without sex-reversal

Stuve–Wiedemann syndrome: Is it underrecognized?

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