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Developments in the Orthopaedic Management of Children With Stüve-Wiedemann Syndrome: Use of the Fassier-Duval Telescopic Rod to Maintain Correction of Deformity
Abstract
Background:
Stüve-Wiedemann syndrome is a rare inherited condition, which is frequently fatal in infancy. Those patients who survive into childhood demonstrate a complex progressive deformity of the long bones, with high rates of recurrence after initial successful correction. Because of the rarity of the condition there is, at present, limited evidence on the most appropriate treatment.
Methods:
We describe our experience in the management of 4 patients, who underwent correction of deformity and fixation with Fassier-Duval telescopic rods.
Results:
In this series we have seen good correction of deformity and maintenance of alignment, with improvement in the walking ability of children treated with this technique.
Conclusion:
Fassier-Duval rodding has a role in the prevention of recurrence of deformity and should be considered as a means to reduce the number of operative procedures required.
Level of evidence:
Level IV-therapeutic.
... Even with careful surgical planning, patients may present recurrence of deformities and often have to undergo multiple procedures. When treating scoliosis, bracing is not always effective and surgical stabilization could be performed with a growing rod [Hassan et al., 2010;Wright et al., 2015]. Pizones et al. [2013] de-scribed a delayed tetraparesis caused by cervical edema that was most likely secondary to ischemia in 2 SWS individuals following posterior spinal surgery for scoliosis. ...
... Multiple osteotomies are performed to correct the bowing of the lower long bones [Hassan et al., 2010;Wright et al., 2015]. To reduce the number of surgical procedures, telescoping Fassier-Duval rods were recommended [Wright et al., 2015]. ...
... Multiple osteotomies are performed to correct the bowing of the lower long bones [Hassan et al., 2010;Wright et al., 2015]. To reduce the number of surgical procedures, telescoping Fassier-Duval rods were recommended [Wright et al., 2015]. As these individuals show decreased sensitivity to pain, Hassan et al. [2010] observed that the operated patients could walk earlier with the frames, which encouraged healing of the osteotomies, and that they tolerated removal of the frame and the pins as outpatients. ...
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.
... Even with careful and early orthopaedic follow-up, repetitive surgical procedures are generally needed to correct limbs and spinal deformities. Surgical stabilization of scoliosis is often required, while osteotomies are performed to reduced limbs deformities [45,46]. Regarding osteotomies, Wright et al. [45] recommend the use of telescopic intramedullary rodding (Fassier-Duval rods) to reduce the risk of recurrence and the need for multiple surgeries. ...
... Surgical stabilization of scoliosis is often required, while osteotomies are performed to reduced limbs deformities [45,46]. Regarding osteotomies, Wright et al. [45] recommend the use of telescopic intramedullary rodding (Fassier-Duval rods) to reduce the risk of recurrence and the need for multiple surgeries. Long-term SWS survivors often undergo multiple surgical procedures, and there was concern of an increased risk of malignant hyperthermia during general anaesthesia in these patients. ...
Background:
Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendations in such rare diseases. We report a new case and provide the first systematic review of all previous published cases.
Objective:
To better describe the timeline of SWS and to improve paediatric management.
Data sources:
SWS English publications available on Pubmed until 31/03/2021.
Study selection:
Case description combining typical osteo-articular and dysautonomic involvement (with 2 items by categories required for children < 2 years and 3 items > 2 years).
Data extraction:
Demographic, clinical, genetics and outcome data.
Results:
In our cohort of 69 patients, the median age at report was 32 months. Only 46% presented antenatal signs. Mortality rate is higher during the first 2 years (42% < 2 years; 10% > 2 years) mainly due to respiratory failure, pulmonary arterial hypertension appearing to be a poor prognosis factor (mortality rate 63%). After 2 years, orthopaedic symptoms significantly increase including joint mobility restriction (81%), spinal deformations (77%) and fractures (61%).
Conclusions:
Natural history of SWS is marked by a high mortality rate before 2 years due to dysautonomic disturbances. A specialized multidisciplinary approach is needed to address these early mortality risks and then adapt to the specific, mainly orthopaedic, needs of patients after 2 years of age. Further research is required to provide clinical guidelines and improve pre-natal counselling.
Medical and surgical treatment of osteogenesis imperfecta has undergone two revolutions that improved quality of life and functional capacity: reduced bone absorption with the use of bisphosphonates, and improvement in internal fixation with the development of Dubow-Bailey then Fassier-Duval™ telescopic rodding.
Telescopic intramedullary rodding in osteogenesis imperfecta and in other pathologies (congenital non-union and other congenital bone disorders) progressed with the replacement of the Dubow-Bailey rod by the telescopic Fassier-Duval™ rod. The aim of the present study was to provide an update on a technique that requires the utmost rigor and is not free of complications. Pitfalls and tips-and-tricks are presented in the light of our own experience.
Résumé
Le traitement médical et chirurgical des ostéogenèses imparfaites a connu deux révolutions qui ont amélioré la qualité de vie et les aptitudes fonctionnelles : la diminution de la résorption osseuse avec les biphosphonates, et l'amélioration des techniques d'ostéosynthèse avec l'enclouage télescopique de Dubow-Bailey puis de Fassier-Duval™.
Les techniques d'enclouage centromédullaire télescopique dans l'ostéogenèse imparfaite mais aussi d'autres pathologies (pseudarthrose congénitale et autres maladies osseuses constitutionnelles) ont évolué avec le remplacement du clou de type Dubow-Bailey par le clou télescopique de Fassier Duval. Le but de cette présentation est de faire le point sur cette technique qui nécessite une grande rigueur, et qui n'est pas dénuée de complications. Les pièges et astuces sont présentés à la lumière de notre expérience.
To examine the functional outcomes of children with osteogenesis imperfecta (OI) following initial Fassier-Duval (FD) rodding to the femur at 1 year, and to determine which factors are associated with change in gross motor function, ambulation, and functional performance.
Approval from our Institutional Review Board was obtained. A retrospective chart review identified 60 children (28 males, 32 females) with OI who underwent initial FD femoral rodding (101 rods) and who were receiving bisphosphonates. The mean age of the children was 3 years, 11 months at the initial femoral FD rodding. Two had type I OI, 30 type III, 27 type IV, and one type VI. The maximum length of follow-up was 4 years. Telescoping FD rods were used for the femurs, with surgeries performed one leg at a time, with a 1-week interval. The active range of motion (AROM) of the hips and knees in flexion was measured 4-5 weeks post-initial rodding. Outcomes on the Gillette Functional Assessment Questionnaire (FAQ) Ambulation Scale, the Gross Motor Function Measure (GMFM), and the Pediatric Evaluation of Disability Inventory (PEDI) were compared pre-operatively and at 1 year post-surgery using t-tests and multivariate linear regression.
Pre-operatively, the mean FAQ score was 2.0, and this increased to 5.8 at 1 year post-surgery. Statistically significant improvements (P ≤ 0.05) were found on the FAQ, crawling, standing, walking and running, and total domains of the GMFM, and PEDI mobility and self-care from baseline to 1 year. The results from the multivariate linear regression indicate that older age (P = 0.0045) and higher weight (P = 0.0164) are significantly associated with lower scores in the self-care domain of the PEDI, and that OI type III compared to type IV is significantly associated (P = 0.0457) with greater improvement on the crawling domain of the GMFM. Higher weight was also associated (P = 0.0289) with lower scores in the standing domain of the GMFM, as well as with the total GMFM score (P = 0.0398).
Our findings indicate that initial FD femoral rodding resulted in benefits in ambulation, gross motor function, self-care, and mobility for children with OI beyond physiological expectations due to developmental growth. FD rodding is a procedure which can improve the overall mobility in children with OI with significant femoral deformities.
Stuve-Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder that is usually associated with high mortality in the neonatal period. Eleven cases have been published with prolonged survival, the oldest being 16 years. This phenotype is characterized by progressive skeletal anomalies including short stature, severe spinal deformities, bowing of the long bones, contractures and spontaneous fractures, and by neurological features that resemble dysautonomia. Here we report on the natural history of a Portuguese girl from birth till 12 years. The diagnosis was molecularly confirmed by the detection of a homozygous 4 bp deletion (167_170 del TAAC) in exon 3 of LIFR. We compare the findings in this patient to other patients with prolonged survival from the literature.
The Sheffield Expanding Intramedullary Rod System was developed after experiencing problems with existing rod systems in the management of osteogenesis imperfecta. Between 1986 and 1996 we treated 74 bones in the lower limb in 28 children at a median follow-up of 5.25 years. We have reviewed 24 children with a total of 60 rods.
Before surgery, all children had had multiple fractures of the lower limb. At review eight patients had experienced no further fractures, but three had suffered five or more subsequently.
Before initial stabilisation, 15 children had never walked, and only three (13%) used walking as their main means of mobility. After surgery, half of those who showed motor arrest were able to walk (p = 0.016). The number of patients able to walk, with or without aids, increased to 17 (p = 0.0001).
We have experienced no evidence of epiphyseal damage after the procedure, and complication rates requiring rod exchange have been low (7%).
Fragmentation, realignment, and internal fixation with an intramedullary rod have been used in the treatment of osteogenesis imperfecta, congenital pseudarthrosis of the tibia, resistant rickets, fibrous dysplasia, and congenital shortening of the long bones. The method has shown some promise.
The use of this technique to stimulate bone growth is still in the experimental stage. Although improved techniques for growth stimulation will probably replace this one, at the present time it appears that some amputations may be avoided by this procedure, pending the development of better methods.
The few patients with congenital pseudarthrosis whom we have treated by this method have responded favorably. The procedure may have something to offer, but too few patients have been treated to permit a true evaluation.
The use of intramedullary support in cases of osteogenesis imperfecta does not solve the basic error in bone pathology, yet it offers the most promising aid in management in the light of our present experience. The patients with severe cases are made more comfortable and are more easily handled from a nursing standpoint. Some children who would never have been able to walk are now ambulatory. This operation with fixation removes the fear of further refracture with its resultant deformities, and allows the patients to approach, more nearly, the normal activities of growing children.
In the field of orthopaedic surgery it seems probable that there are definite conditions in which the operation of fragmentation, realignment, and intramedullary fixation of long bones offers advantages that cannot be obtained by other presently known methods. If performed thoughtfully and carefully, the results should be quite rewarding.
We report three children from two inbred Arab families with Stüve-Wiedemann syndrome who have survived the first year of life (ages are 6 years, 2.8 years and 2 years). All exhibited a characteristic phenotype resembling that described by Chen et al. [(2001). Am J Med Genet101:240–245]. In all three children the skeletal abnormalities progressed to severe bowing of the long bones with prominent joints and severe spinal deformity. Neurological symptoms were present in all of them. These included temperature instability with excessive sweating, reduced pain sensation with repeated injury to the tongue and limbs, absent corneal reflexes and a smooth tongue. Mentality was normal in all of them. Radiological changes included under tubulation of the diaphyses, rarefaction and striation of metaphyses, destruction of the femoral heads and spinal deformity. We confirm that survival in this syndrome is possible and that the prognosis improves after the first year of life. This should be taken into consideration when counselling parents of affected children. This report further supports the existence of a characteristic phenotype in Stüve-Wiedemann syndrome survivors which include, in addition to the skeletal abnormalities and distinctive radiological features, neurological symptoms reminiscent of dysautonomia.
Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the Stüve-Wiedemann syndrome (SWS), which comprises campomelia at birth with skeletal dysplasia, contractures, and early death. To test for possible nosologic identity between these disorders, we reviewed the literature and obtained a follow-up of the only two surviving patients, one with SJS type 2 at age 10 years and another with SWS at age 7 years. Patients reported as having either neonatal SJS or SWS presented a combination of a severe, prenatal-onset neuromuscular disorder (with congenital joint contractures, respiratory and feeding difficulties, tendency to hyperthermia, and frequent death in infancy) with a distinct campomelic-metaphyseal skeletal dysplasia. The similarity of the clinical and radiographic findings is so extensive that these disorders appear to be a single entity. The follow-up observation of an identical and unique pattern of progressive bone dysplasia in the two patients (one with SJS type 2, one with SWS) surviving beyond infancy adds to the evidence in favor of identity. The hypothesis that SWS and SJS type 2 are the same disorder should be testable by molecular methods. Am. J. Med. Genet. 78:150–154, 1998. © 1998 Wiley-Liss, Inc.
Stüve-Wiedemann syndrome (SWS) is a rare disorder characterized by bowing of the long bones, camptodactyly, respiratory distress,
hyperthermic episodes and early lethality. We report six additional cases of SWS, suggesting that this syndrome is homogeneous.
All patients had feeding and swallowing difficulties, respiratory insufficiency, dysmorphic features and radiolucent metaphyses
with abnormal trabecular pattern. Recurrent episodes of unexplained fever was the cause of death in almost all cases. Parental
consanguinity and recurrence in sibs is highly suggestive of autosomal recessive inheritance.
Akawi NA, Ali BR, Al‐Gazali L. Stüve–Wiedemann syndrome and related bent bone dysplasias.
Stüve–Wiedemann syndrome (SWS) is a severe congenital skeletal dysplasia associated with life threatening dysautonomic manifestations. Newborns affected with this condition exhibit distinctive shortening and bowing of the long bones with reduced bone volume. The majority of affected newborns die early due to neuromuscular complications namely hyperthermia, apnea, and swallowing difficulties. In this review, we provide an overall picture on the clinical, including long‐term management, molecular and cellular aspects of SWS and discuss briefly other related bent bone dysplasias.
Stüve-Wiedemann syndrome is an autosomal-recessive disorder characterised by bowing of the long bones, progressive scoliosis, episodic hyperthermia and respiratory distress, usually resulting in death in infancy. We reviewed five children with the condition who had been followed since birth and who survived into childhood with a mean age at operation of 7.8 years (5 to 14). There was marked functional impairment with dysplasia of the long bones and scoliosis. Treatment of the triplanar deformities of the femora involved the use of the Ilizarov technique with the Taylor Spatial Frame.
Walking was preserved and improved in three children along with considerable enhancement of the appearance. Early insertion of a growing rod to control the progressive juvenile scoliosis was beneficial. The use of the Taylor Spatial Frame is strongly recommended to address the major complex deformities of the lower limbs which are encountered in this condition and to prevent their progression.
Jung C, Dagoneau N, Baujat G, Le Merrer M, David A, Di Rocco M, Hamel B, Mégarbané A, Superti-Furga A, Unger A, Munnich A, Cormier-Daire V. Stüve–Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Stüve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition caused by mutations in the leukemia inhibitory receptor (LIFR) gene. The main characteristic features are bowing of the long bones, neonatal respiratory distress, swallowing/sucking difficulties and dysautonomia symptoms including temperature instability often leading to death in the first years of life. We report here four patients with SWS who have survived beyond 36 months of age with no LIFR mutation. These patients have been compared with six unreported SWS survivors carrying null LIFR mutations. We provide evidence of clinical homogeneity of the syndrome in spite of the genetic heterogeneity.
The United Arab Emirates inhabitants are ethnically diverse, with ancestries from Arabia, Persia, Baluchistan, and Africa. However, the majority of the current five million inhabitants are expatriates from the Asian subcontinent, Middle Eastern, African, and European countries. Consanguineous marriages within most UAE subpopulations are still the norm, leading to the formation of isolates and higher frequencies of recessive conditions. The UAE is ranked sixth in terms of prevalence of birth defects, with more than 270 genetic disorders reported in the national population. The UAE has high frequencies of blood disorders including thalassemias, sickle cell disease, and G6PD. In addition, certain genetic conditions are relatively common including cystic fibrosis, Joubert, and Meckel syndromes. Furthermore, numerous rare congenital malformations and metabolic disorders have been reported. We review the single gene disorders that have been studied at the molecular level in the UAE (which currently stand at 76) and compile the mutations found. Several novel (p.S2439fs) mutations have been reported including c.7317delA in NF1, c.5C>T (p.A2V) in DKC1, c.1766T>A (p.I589N) in TP63, and c.2117G>T (p.R706L) in VLDLR. We hope that this review will form the basis to establish a UAE mutations database and serve as a model for the collection of mutations of a country.
Stuve Wiedemann syndrome (SWS) is an autosomal recessively inherited syndrome which is characterized by bowing of the long bones, camptodactyly, facial dysmorphism, hypotonia, feeding and swallowing difficulties, and respiratory distress. In most cases episodes of unexplained hyperthermia are present. Patients with SWS can develop hyperthermia in conjunction with anesthesia and surgery, and a relationship has been suggested between the syndrome and malignant hyperthermia. We describe a 3-year-old child diagnosed with SWS to whom we administered general anesthesia during the removal of a corneal ulcer and dilatation of the lacrimal duct. Our patient had received, uncomplicated, inhalational anesthesia five times previously for different operations. There were no anesthesia-related complications in the present or previous perioperative periods. On one occasion the patient developed mild postoperative hyperthermia. We believe that this hyperthermia is different from the specific disorder of malignant hyperthermia and that sevoflurane can be safely used in patients with SWS. We also describe symptomatically related syndromes and their theoretical risks for anesthesia.
Patients with osteogenesis imperfecta who have undergone multiple osteotomies with realignment and intramedullary rod fixation of a deformed bone frequently require replacement of the rod because the bone grows and angulates when the rod no longer is long enough to support the bone from metaphysis to metaphysis. The Bailey-Dubow intramedullary rod, which elongates with growth, is an attempt to solve this problem. This is a review of 153 rod-fixations in seventy-two bones (twenty patients), forty-seven being Bailey-Dubow rods. Use of the elongating rod effectively increased the average length of time between replacement operations, yielded a lower removal rate, and showed no additional adverse effects. The Bailey-Dubow rod represents a measurable improvement over non-elongating rods.
Stüve-Wiedemann osteochondrodysplasia is a rare disorder with distinct clinical and diagnostic radiographic findings. The condition is classified as a bent-bone dysplasia with early, lethal outcome. We report on a boy with Stüve-Wiedemann syndrome who is well and alive at the age of 3 1/2 years.
Stüve-Wiedemann syndrome (SWS) is, at last, beginning to emerge from the shadows of campomelic syndrome as a nosologically and, presumably, causally-distinct entity, first delineated in 1971 on the basis of 2 affected sisters. The fact that these sisters had an affected double first cousin supports autosomal-recessive inheritance of SWS.
We report two fetuses with congenital bowing of the long bones. Clinical and radiological features led us to consider two conditions: the Stüve-Wiedemann syndrome and the neonatal Schwartz-Jampel syndrome type 2. Similarities between the two syndromes are discussed.
Stuve-Wiedemann syndrome (SWS) is a severe autosomal recessive condition characterized by bowing of the long bones, with cortical thickening, flared metaphyses with coarsened trabecular pattern, camptodactyly, respiratory distress, feeding difficulties, and hyperthermic episodes responsible for early lethality. Clinical overlap with Schwartz-Jampel type 2 syndrome (SJS2) has suggested that SWS and SJS2 could be allelic disorders. Through studying a series of 19 families with SWS/SJS2, we have mapped the disease gene to chromosome 5p13.1 at locus D5S418 (Zmax=10.66 at theta =0) and have identified null mutations in the leukemia inhibitory factor receptor (LIFR or gp190 chain) gene. A total of 14 distinct mutations were identified in the 19 families. An identical frameshift insertion (653_654insT) was identified in families from the United Arab Emirates, suggesting a founder effect in that region. It is interesting that 12/14 mutations predicted premature termination of translation. Functional studies indicated that these mutations alter the stability of LIFR messenger RNA transcripts, resulting in the absence of the LIFR protein and in the impairment of the JAK/STAT3 signaling pathway in patient cells. We conclude, therefore, that SWS and SJS2 represent a single clinically and genetically homogeneous condition due to null mutations in the LIFR gene on chromosome 5p13.
BACKGROUND: We report on two siblings with Stüve-Wiedemann syndrome (SWS). The older patient, a 16-year-old boy, is -- as to our knowledge -- the longest-term survivor of this syndrome worldwide. The younger sister with the same clinical and radiographic findings died at the age of 10 months. DEFINITION: Characteristic clinical symptoms are: muscular hypotonia, camptodactyly; respiratory insufficiency, swallowing difficulties; reduced sweating with heat intolerance, episodes of hyperthermia. Typical radiographic findings are: progressive bone bowing, unusual bone fractures, abnormal trabecular pattern, middle face hypoplasia. GENETICS: The SWS is identical with the Schwartz-Jampel syndrome (SJS) type 2, which is gene-located on chromosome 1. So far further genetic details of the SWS can be expected in the near future. The genetic transmission is autosomal recessive. In inbred high risk populations the occurrence of the SWS is increased. THERAPY: For the present only symptomatic therapy is available: extended intensive care during infancy, supportive pediatric orthopedics later on.
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia
- Di Rocco
Congenital bowing of long bones—occurrence in two sisters
- Stuve