Stuve–Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones

Begam, M.; Alsafi, Walaa; Bekdache, G. N.; Chedid, Fares; Mirghani, H.

doi:10.1002/uog.8967

Cited by 12 publications

(20 citation statements)

References 33 publications

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“…Prenatal symptoms can sometimes be seen in the late second- or third trimester. The prenatal symptoms of STWS include oligohydramnios, intrauterine growth restriction despite normal Doppler findings about the umbilical artery, camptodactyly, bowing of the lower bones affecting the tibia more than the femur, and micromelia [20]. …”

Section: Clinical Manifestationsmentioning

confidence: 99%

“…The mouse phenotype is considered to be similar to that of STWS [7]. Furthermore, most patients with STWS have a mutation within the LIFR gene [20]. Many STWS patients in the United Arab Emirates have an identical frameshift mutation in the LIFR gene that results in a premature stop codon [20].…”

Section: Genetic Etiologymentioning

confidence: 99%

“…Taken together, OSM and CT-1 are the most likely LIFR ligands responsible for the respiratory distress and dysphagia seen in STWS. Others have argued that the respiratory distress of STWS may be secondary to myotonia instead of pulmonary hypoplasia [20]. …”

Section: Lifr Ligands Linked To Neonatal Developmentmentioning

confidence: 99%

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

Mikelonis

Jorcyk

Tawara

et al. 2014

Orphanet J Rare Dis

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Stüve-Wiedemann syndrome (STWS; OMIM #610559) is a rare bent-bone dysplasia that includes radiologic bone anomalies, respiratory distress, feeding difficulties, and hyperthermic episodes. STWS usually results in infant mortality, yet some STWS patients survive into and, in some cases, beyond adolescence. STWS is caused by a mutation in the leukemia inhibitory factor receptor (LIFR) gene, which is inherited in an autosomally recessive pattern. Most LIFR mutations resulting in STWS are null mutations which cause instability of the mRNA and prevent the formation of LIFR, impairing the signaling pathway. LIFR signaling usually follows the JAK/STAT3 pathway, and is initiated by several interleukin-6-type cytokines. STWS is managed on a symptomatic basis since there is no treatment currently available.

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Section: Clinical Manifestationsmentioning

confidence: 99%

Section: Genetic Etiologymentioning

confidence: 99%

See 1 more Smart Citation

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

Mikelonis

Jorcyk

Tawara

et al. 2014

Orphanet J Rare Dis

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“…In the third trimester, there were signs of intrauterine growth restriction with normal Doppler findings and oligohydramnios. The latter showed a variable onset, occurring between 28 and 36 weeks of gestation [Begam et al, 2011].…”

Section: Prenatal Abnormalitiesmentioning

confidence: 99%

“…The main ultrasound findings in SWS should be differentiated from other bent-bone skeletal dysplasias, such as campomelic, kyphomelic and diastrophic dysplasias [Farra et al, 2002;Begam et al, 2011]. The majority of the cases described in the literature in which the diagnosis of SWS was achieved in the prenatal period had a positive family history [Sigaudy et al, 1998;Catavorello et al, 2013].…”

Section: Prenatal Abnormalitiesmentioning

confidence: 99%

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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Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature

Siccha

Cueto

Parrón‐Pajares

et al. 2020

American J of Med Genetics Pt A

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Stuve–Wiedemann syndrome (SWS; MIM 601559) is a rare autosomal recessive disease caused by mutations in the leukemia inhibitor factor receptor gene (LIFR). Common clinical and radiological findings are often observed, and high neonatal mortality occurs due to respiratory distress and hyperthermic episodes. Despite initially considered as a lethal disorder during the newborn period, in recent years, several SWS childhood survivors have been reported. We report a detailed clinical and radiological characterization of four unrelated childhood SWS molecularly confirmed patients and review 22 previously reported childhood surviving cases. We contribute to the definition of the childhood survival phenotype of SWS, emphasizing the evolving phenotype, characterized by skeletal abnormalities with typical radiological findings, distinctive dysmorphic features, and dysautonomia. Based on the typical features and clinical course, early diagnosis is possible and crucial to plan appropriate management and prevent potential complications. Genetic confirmation is advisable in order to improve genetic counseling to the patients and their families.

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Stuve–Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones

Abstract: Objective To describe the prenatal sonographic features of Stuve-Wiedemann syndrome (SWS). Methods

Cited by 12 publications

References 33 publications

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

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

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature

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