Stüve-Wiedemann1,2 syndrome is a rare autosomal recessive disorder with particular challenges in the management of its orthopaedic manifestations. The characteristic orthopaedic features include short stature with progressive bowing of the long bones, wide metaphyses with abnormal trabecular patterns, large joint contractures, campylodactyly, and scoliosis.3–5
Other characteristic features include autonomic dysregulation with episodes of hyperthermia, and respiratory and swallowing difficulties. Facial features include micrognathia, short palpebral fissures, and a pursed lipped appearance, relating to facial myotonia.6
Stüve-Wiedemann was historically also referred to as Schwartz-Jampel syndrome type 2, although the 2 syndromes were later found to be genetically and phenotypically indistinguishable.7–9 The majority of cases of Stüve-Wiedemann syndrome have been described in patients from a group of families in the United Arab Emirates,10,11 although there have been reports of cases from elsewhere including Europe and North Africa.3,12,13 The syndrome is frequently fatal in infancy, although more recent reports have described longer-term survival in patients,8,14–17 permitting better understanding of the natural history. Because of the rarity of the disease and the relative infrequency of survival beyond infancy, only 1 center has reported their experience in the management of limb deformity in this condition.5
We describe a case series illustrating the unique challenges associated with orthopaedic management of Stüve-Wiedemann syndrome and the lessons learned through development of treatment strategies.
Four children (2 pairs of siblings) have undergone treatment of their limb deformities by the senior author since 2006. The mean duration of total follow-up from presentation is 71 months (range, 56 to 82 mo).
The limb deformities in all 4 children included multiplanar bowing of both femurs and tibiae with additional external rotation deformity of the femora and variable coxa vara (Table 1). At time of latest follow-up, 2 of the patients had gone on to demonstrate evidence of acetabular dysplasia with hip subluxation, of which 1 patient has been treated with a shelf acetabuloplasty due to pain. All 4 patients demonstrated campylodactly, although upper limb deformities were less severe with none requiring operative treatment.
All of the children had limited walking ability on presentation, with use of a wheelchair outside the house. At time of latest follow-up, 3 of 4 had improved walking ability, following surgical intervention, with some limited community walking. One patient had a transient improvement with subsequent deterioration of respiratory function and consequent limitation in mobility to wheelchair use. Pain was not a significant factor in their presenting complaints, reflecting reduced pain sensitivity in this patient group. One patient had sustained a fracture of their femur immediately before initial presentation following a fall from a chair.
Each of the 4 children demonstrated the characteristic facies and limb deformities as described above. All 4 were under regular ophthalmic review for corneal ulceration and opacities relating to absence of the corneal reflex and pain insensitivity. Respiratory difficulties affected each of the children to a varying extent with recurrent chest infections being a problem in all. One child also required surgical intervention for closure of an atrial septal defect. Three of the 4 children required surgical management of their scoliosis with insertion of growing rods, with the remaining 1 being managed conservatively.
Surgical management involved use of ≥1 osteotomies, planned according to the location and severity of the (often multiplanar) deformity. Table 2 summarizes the surgical procedures undertaken by each patient. Initially, stability was achieved by either the use of rush pins or plates. If the deformity required, correction was achieved with use of a Taylor Spatial frame (1 patient).
Recurrence of deformity despite initial correction was found to be frequent in this patient group, requiring repeat procedures. Because of this finding, our practice moved to the use of telescoping Fassier-Duval rods (Pega Medical Inc., Montreal, Canada). The theory of this was to maintain an intramedullary splint to prevent against progressive deformity and to reduce the requirement for further surgery as the child outgrows successive rush pins. The Fassier-Duval rod has been used in all 4 patients (8 femurs, 4 tibias). Diameter of rod used ranged from 4.8 to 6.4 mm (Figs. 1A–E).
There are particular anesthetic challenges associated with the treatment of these children; 1 patient in our series required a bilateral rodding procedure to be abandoned halfway due to autonomic dysregulation with uncontrollable labile hyper/hypotension. The second side was performed 2 weeks later without complication. Likewise the presence of recurrent chest infections in this patient group played a role in timing of surgery.
Surgical site infection was not seen following any of the procedures in this series. A tendency toward brisk bleeding at the time of osteotomy was recorded in the operative notes for all cases, although no return to theater was required for bleeding. One patient sustained a fracture of their tibia following removal of plaster for an osteotomy fixed with K-wires (aged 2). One broken rush pin was seen in the femur as deformity progressed requiring revision to a Fassier-Duval rod. No failure of metalwork was seen in the Fassier-Duval rods, with no episodes of intra-articular perforation, failure of telescoping, or loss of epiphyseal fixation.
At present, all patients treated with this technique have not demonstrated any recurrence in deformity (mean follow-up from treatment with Fassier-Duval rod: 26 mo; range, 3 to 39 mo).
Stüve-Wiedemann syndrome is a rare disorder, so even surgeons experienced in the management of dysplasia and deformity have limited exposure to this condition. As such, good application of first principles of deformity correction, along with continued review of outcomes, must be used to refine orthopaedic management strategies.
A number of features can cause difficulty to the surgeon managing these patients, beyond that of the complexity of the deformity. Reduced sensitivity to pain10,16 can reduce the normal protective mechanisms during healing following osteotomy; combined with the ophthalmic issues resulting from absence of corneal reflex, this may lead to an increased risk of further injury and fracture. Autonomic dysregulation and hyperthermia also present challenges in perioperative management and anesthesia.13 In our case series no patients demonstrated intraoperative or postoperative hyperthermia, although intraoperative labile blood pressure was seen in 1 patient.
Hassan et al5 described a series of 5 patients with Stüve-Wiedemann syndrome in 3 of whom they reported the use of the Taylor Spatial frame to correct the complex 3-plane deformities seen in this condition. Their hypothesis was that recurrence was due to insufficient correction in all 3 planes with conventional osteotomy. They demonstrated an effective correction of deformity, although their recurrence with longer-term follow-up has yet to be reported. We agree that this technique is an effective tool in one’s armamentarium for correction of such deformity, however, the nature of the skeletal manifestations is due to abnormalities in bone turnover, osteoblast, and chondrocyte differentiation, causing the progressive bowing.3 It is these intrinsic abnormalities of the bone that lead to the frequent recurrence of deformity, even when anatomic correction has been achieved. We believe that this warrants the use of intramedullary stabilization, either as a primary procedure or following frame removal.
The use of multiple osteotomies and intramedullary fixation for correction of deformity has been in use for some time since its original description in 1959.18 Bailey and Dubow developed a telescopic rodding system19,20 to overcome the problems of solid rods being outgrown, with subsequent work finding significantly fewer further procedures being performed in patients with telescoping rods, in comparison to solid nails.21 The Fassier-Duval rod was developed with the aim to provide a telescopic rod with a more secure means of fixation to the epiphysis, while avoiding violation of the articular cartilage of the knee (in femoral rodding) or of the ankle (in tibial rodding). This has been used in the treatment of ostegenesis imperfecta with results suggesting encouraging results in comparison to other techniques with lower rates of reoperation and complications.22
In Stüve-Wiedemann syndrome, we have found patients often require procedures on multiple long bones, and then proceed to undergo revision surgery due to recurrence of deformity. This has the potential to result in their spending a large proportion of their childhood awaiting or recovering from surgical procedures. At the time of writing, there has been no recurrence in those bones treated with Fassier-Duval rodding. Our hope is that the findings demonstrated in the use of the technique in osteogenesis imperfecta will be translated to this patient group, with reduced numbers of repeat procedures.
The use of the Fassier-Duval rod is a technically challenging procedure with a long learning curve. We have found certain aspects, particular to this patient group, may present obstacles and must be taken into consideration with planning. The complex deformities seen may require multiple osteotomies to correct the alignment and allow passage of the rod in a good position. The bone in Stüve-Wiedemann syndrome can be sclerotic and flattened, with loss of the normal medullary canal, which makes reaming difficult. The use of a standard front cutting drill to cut out a track for the reamers is helpful and care must be taken not to cause thermal necrosis in sclerotic bone with side cutting reamers. Bleeding was noted to be greater than expected after osteotomy, which must be anticipated, although this did not result in return to theater in this group. The epiphyses in Stüve-Wiedemann are small, often requiring the shortest male component and meticulous technique to achieve good fixation. “Interlocking” with a K-wire through the keyhole in the male component, allowed augmentation of fixation in 1 case where this was tenuous (Fig. 2). Often rotational deformities require correction in this condition. As the design of the Fassier-Duval rod does not confer rotational stability, it is the senior author’s practice to apply a short derotation plate across the osteotomy site if there concern is that rotational correction will not be maintained.
We acknowledge that in rare conditions such as this, often the patient numbers preclude quantitative data analysis. As such, qualitative observations and experience must be used to guide and develop treatment strategies. If more patients continue to survive beyond infancy, then ongoing review of the management will be required as overall experience increases.
We have described our experience in the management of the orthopaedic manifectations of Stüve-Wiedemann syndrome. The deformities are often complex, severe, and have tendency of recurrence. We suggest that telescopic intramedullary rodding plays a useful role in both the correction and maintenance of position in this patient group, reducing the risks of recurrence of the deformity.
1. Stuve A, Wiedemann HR. Congenital bowing of long bones—occurrence in two sisters. Z Kinderheilkd. 1971;111-3:184–192.
2. Wiedemann HR, Stuve A. Stuve-Wiedemann syndrome: update and historical footnote. Am J Med Genet. 1996;63-1:12–16.
3. Akawi NA, Ali BR, Al-Gazali L. Stuve-Wiedemann syndrome and related bent bone dysplasias. Clin Genet. 2012;82-1:12–21.
4. Cormier-Daire V, Munnich A, Lyonnet S, et al. Presentation of six cases of Stuve-Wiedemann syndrome. Pediatr Radiol. 1998;28-10:776–780.
5. Hassan A, Whately C, Letts M. The orthopaedic manifestations and management of children with Stuve-Wiedemann syndrome. J Bone Joint Surg Br. 2010;92-6:880–884.
6. Jones K. Smith’s Recognisable Patterns of Human Malformation, 7th ed. Philadelphia, PA: Elsevier Health Sciences; 2013:298–299.
7. Sigaudy S, Moncla A, Fredouille C, et al. Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel
syndrome type 2. Clin Dysmorphol. 1998;7-4:257–262.
8. Superti-Furga A, Tenconi R, Clementi M, et al. Schwartz-Jampel
syndrome type 2 and Stuve-Wiedemann syndrome: a case for “lumping”. Am J Med Genet. 1998;78-2:150–154.
9. Dagoneau N, Scheffer D, Huber C, et al. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel
type 2 syndrome. Am J Hum Genet. 2004;74-2:298–305.
10. Al-Gazali LI, Ravenscroft A, Feng A, et al. Stuve-Wiedemann syndrome in children surviving infancy: clinical and radiological features. Clin Dysmorphol. 2003;12-1:1–8.
11. Al-Gazali L, Ali BR. Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). Hum Mutat. 2010;31-5:505–520.
12. Jung C, Dagoneau N, Baujat G, et al. Stuve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity. Clin Genet. 2010;77-3:266–272.
13. Bonthuis D, Morava E, Booij LH, et al. Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications. Paediatr Anaesth. 2009;19-3:212–217.
14. Reither M, Urban M, Kozlowski KS, et al. Stuve-Wiedemann syndrome in two siblings: focusing on a male patient with the longest actual survival rate. Klin Padiatr. 2006;218-2:79–84.
15. Kozlowski K, Tenconi R. Stuve-Wiedemann dysplasia
in a 3 1/2-year-old boy. Am J Med Genet. 1996;63-1:17–19.
16. Gaspar IM, Saldanha T, Cabral P, et al. Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. Am J Med Genet A. 2008;146A-13:1748–1753.
17. Di Rocco M, Stella G, Bruno C, et al. Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. Am J Med Genet A. 2003;118A-4:362–368.
18. Sofield H, Millar E. Fragmentation, realignment, and intramedullary rod fixation of deformities of the long bones in children: a ten-year appraisal. J Bone Joint Surg Am. 1959;41:1371–1391.
19. Bailey RW, Dubow HI. Studies of longitudinal bone growth resulting in an extensible nail. Surg Forum. 1963;14:455–458.
20. Wilkinson JM, Scott BW, Clarke AM, et al. Surgical stabilisation of the lower limb in osteogenesis imperfecta using the Sheffield Telescopic Intramedullary Rod System. J Bone Joint Surg Br. 1998;80-6:999–1004.
21. Marafioti RL, Westin GW. Elongating intramedullary rods in the treatment of osteogenesis imperfecta. J Bone Joint Surg Am. 1977;59-4:467–472.
22. Ruck J, Dahan-Oliel N, Montpetit K, et al. Fassier-Duval femoral rodding in children with osteogenesis imperfecta receiving bisphosphonates: functional outcomes at one year. J Child Orthop. 2011;5-3:217–224.