Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review

Warnier, Hélène; Barrea, Christophe; Bethlen, Sarah; Schrouff, I; Harvengt, Julie

doi:10.1186/s13023-022-02323-8

Cited by 15 publications

(33 citation statements)

References 49 publications

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“…Amongst the cases described in existing literature, most patients showed bowing of lower limb bones, camptodactyly, intrauterine growth restriction on second trimester and oligohydraminos in third trimester prenatal ultrasound ( 11 ). Bowing of lower limb bones such as tibia, and sparing fibula and upper limb bones, is one of the most prominent prenatal findings in SWS and reported in at least 46% of cases ( 8 ). There was initial confusion in differentiating SWS and Schwartz–Jampel Syndrome (SJS) Type 2 which seemed to share similar disease characteristics; but was later demonstrated to share the same molecular basis, thus establishing they were clinically and genetically analogous conditions ( 1 ).…”

Section: Discussionmentioning

confidence: 99%

A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature

Bhalla,

Sati,

Basel

et al. 2024

Front. Pediatr.

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Stüve–Wiedemann syndrome (SWS) is a rare autosomal recessive disorder that is characterized by bowing of long bones, dysautonomia, temperature dysregulation, swallowing and feeding difficulties, and frequent respiratory infections. Respiratory distress and hyperthermic events are the leading causes of early neonatal death, and most patients are not expected to survive past infancy. Here, we report on the survival of a 5-year-old male with SWS, discussing his case presentation, providing a brief clinical course, and discussing the outcome. This case adds to the literature surrounding rare instances of childhood survivors of SWS and raises awareness for this syndrome to facilitate an earlier recognition, intervention, and genetic counseling for the families, thereby improving understanding of this disease and the health outcomes for the children affected by this condition.

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Section: Discussionmentioning

confidence: 99%

A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature

Bhalla,

Sati,

Basel

et al. 2024

Front. Pediatr.

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“…Its prevalence is not yet known, but it is considered to be rare [3,4]. SWS treatment focuses on symptom management and supportive care because there is presently no cure for the condition [5]. The major types of treatment for people with SWS include orthopedic therapies to control bone abnormalities and enhance mobility, respiratory assistance for those who have breathing problems, and nutritional support to deal with feeding and growth challenges [5][6][7].…”

Section: Introductionmentioning

confidence: 99%

“…To further enhance quality of life, professional interventions like pain management, physical therapy, and occupational therapy may be suggested. Care for people with SWS also includes careful observation and control of potential side effects including scoliosis, pneumonia, and cardiovascular problems [5,6,8,9]. It is also advised that affected people and their families get genetic counseling to better understand the hereditary basis of the condition and to go over family planning alternatives [5,9].…”

Section: Introductionmentioning

confidence: 99%

Stuve-wiedemann syndrome in a child: a case report

Ferrari

Santos

Miguel

et al. 2023

MedNEXT

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Introduction: Stüve-Wiedemann Syndrome was first described in 1971. However, this disease was considered a single entity only a few years later. The syndrome is now known to be an autosomal recessive disorder in which the patient has dysautonomia, bone dysplasia and respiratory distress and eating disorder. Objective: To report the case of a girl with Stuve-Wiedemann Syndrome. Case Description: A 7-year-old female SSG patient presented, at birth, with early neonatal sepsis, septic shock, pneumonia, respiratory acidosis, jaundice without the need for phototherapy, food intolerance, anemia, seizures, interstitial pulmonary edema, myositis and osteomyelitis of the right humerus. After 11 months of follow-up, she was referred to a maternal-fetal clinic for genetic testing to investigate the symptoms. The patient was diagnosed with Stüve-Wiedemann Syndrome. Final Considerations: This disease is considered a primary congenital bone dysplasia, characterized by skeletal and joint changes, bowing of the long bones, episodic hyperthermia, periodic respiratory infections, eating disorders and high mortality. These were facts found in the case of the child presented here. On the other hand, this disease can manifest other symptoms such as fissured tongue and episodes of hyperhidrosis, but it was not found in our patient's case. Rare diseases of genetic origin have a high negative impact on patients' quality of life. However, with the practice of physical activity, patients can have a healthy diet. Swimming practice by SSG presents itself as an extremely important activity for the physical and psychological development of this child, contributing to the improvement of her quality of life.

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“…Subsequently, her condition stabilized. The patient continued taking sildenafil for long-term treatment of pulmonary hypertension and is currently thriving at eight months of age 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 .…”

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confidence: 99%