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 Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 54  |  Issue : 2  |  Page : 66-69

Treatment results of teratologic arthrogryposis in a case of Freeman-Sheldon syndrome: A 25-year follow-up


Department of Orthopedic, Chi-Mei Medical Center, Tainan, Taiwan

Date of Submission18-May-2020
Date of Decision23-Jun-2020
Date of Acceptance16-Sep-2020
Date of Web Publication20-Mar-2021

Correspondence Address:
Lin-Shaw Chin
No. 901, Zhonghua Road, Yongkang Dist., Tainan City
Taiwan
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/fjs.fjs_79_20

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  Abstract 


Freeman-Sheldon syndrome (FSS) is a very rare genetic disorder, also called “whistling-face syndrome.” Patients with this condition have distinctive facial appearance of small mouth and pursed lips, and skeletal malformations such as talipes equinovarus, hip dysplasia, camptodactyly, and scoliosis. The reports for the arthrogryposis of such cases by management are rare. A 2-year-old girl with FSS presented with hypertelorism, increased philtrum length, small nose and nostrils, and pursed lips, with skeletal deformities including (1) bilateral windmill vane hands, (2) bilateral rigid talipes equinovarus, and (3) bilateral high riding hip dislocation. To provide the patient with a pair of plantigrade feet for future standing, we performed a bilateral clubfoot soft tissue release and total talectomy with tibiocalcaneal fusion. For the bilateral high riding hip dislocation, we chose the nonoperative treatment by rehabilitation, given that the pelvis was relatively stable and in a leveled position. At the 25-year follow-up, she walked independently with mild waddling gait without support, on a stable, plantigrade foot. From the outcome, performing radical soft-tissue release with talectomy to obtain a plantigrade foot and conservative treatment for the bilateral hip dislocation to ensure a leveled pelvis may be a proper option for such cases.

Keywords: Arthrogryposis, Freeman-Sheldon syndrome, teratologic clubfoot, teratologic hip dislocation


How to cite this article:
Wu TM, Chin LS. Treatment results of teratologic arthrogryposis in a case of Freeman-Sheldon syndrome: A 25-year follow-up. Formos J Surg 2021;54:66-9

How to cite this URL:
Wu TM, Chin LS. Treatment results of teratologic arthrogryposis in a case of Freeman-Sheldon syndrome: A 25-year follow-up. Formos J Surg [serial online] 2021 [cited 2021 Apr 13];54:66-9. Available from: https://www.e-fjs.org/text.asp?2021/54/2/66/311590




  Introduction Top


Freeman-Sheldon syndrome (FSS), first described as Cranio-carpo-tarsal dystrophy, was initially introduced in 1938 by Freeman and Sheldon.[1] It was also called whistling face syndrome due to its distinctive facial appearance of small mouth and pursed lips. Moreover, skeletal malformation such as talipes equinovarus, hip dysplasia, camptodactyly, and scoliosis often accompanied.

Case reports of FSS were limited, and the reviews of surgical management for the arthrogryposis of such cases were even rarer. We present a 25-year follow-up of a case of FSS with arthrogryposis after our management.


  Case Report Top


A 2-year-old girl with a facial presentation of hypertelorism, an increased philtrum length, small nose and nostrils, and pursed lips came for further management. There were several skeletal deformities, including (1) bilateral windmill vane hand, (2) bilateral rigid talipes equinovarus, and (3) bilateral high riding hip dislocation. There was no known family history of any congenital diseases. With the typical image [Figure 1], which matched the Stevenson criteria,[2] the diagnosis of FSS was made.
Figure 1: The gross appearance of the patient

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For the windmill vane hands, the plastic surgeons provided right hand first web space release for better thumb abduction and opposition function. Unfortunately, severe rebounds of contracture gradually developed. To avoid multiple revision surgeries and their risks, the plastic surgeons used conservative treatment of rehabilitation and splinting. Despite the bilateral high riding hip dislocation, her pelvis was rather stable and in a leveled position. The nonoperative treatment was finally performed by rehabilitation without invasive procedures. To provide her with a pair of plantigrade feet for future standing, we initially performed bilateral clubfoot soft tissue release, including Achilles tendon tenotomy by Cincinnati incision on her when she was 2.5-year-old. As contracture of equinovarus recurred, radical soft tissue release with total talectomy surgery and tibiocalcaneal fusion was carried out at 3.5-year-old. The operative wound and the gap between the incisions were so much that we had to close the wound by regional rotational flap transfer [Figure 2]. Consequently, her feet were able to hold in a plantigrade functional position for stable standing and fit in most normal shoe wear of larger size [Figure 3].
Figure 2: Teratological clubfoot undergone surgical correction by radical soft-tissue release and total talectomy

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Figure 3: Present gross appearance of the hands and feet under plantigrade position

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At present, the 28-year-old patient under a rather well condition comes for the 25-year skeletal structural condition survey at our department. The motion of the wrist and the ulnar deviated fingers are severely compromised without functional movement, but the flexion, extension, and opposition of thumb are relatively preserved. She can eat, grab things, and even work by the self-adapted windblown hand. The bilateral elbows range of motion (ROM) can maintain about 0°–100°, and the right wrist was stiffed at flexion 40°, while the left wrist had residual ROM of about 10°–40° of flexion. The left thumb had sustained flexion contracture under full flexion, while the right thumb can perform about 40° of flexion-extension and opposition. The self-completed disabilities of the arm, shoulder and hand score is 18.3, and she currently works at a local pharmacy as an assistant. As for the lower limbs, the hips provide about 30° in flexion, and 20° in abduction. The ankles are stiff and stable without significant valgus or varus deformity. [Figure 4] shows that the residual ankle ROM is about 20° of plantar flexion in bilateral feet.
Figure 4: Craniofacial ratio is around 0.21

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Despite the fact that she had occasional low back and right ankle pain around visual analogue scale 2 after standing or walking for a long time, she can independently walk with mild waddling gait without support. The follow-up X-ray shows that the craniofacial ratio is around 0.21 [Figure 4], which is lesser than the average value of 0.5 in adult. Craniofacial ratio is the percentage of the skull area beneath the line drawn parallel to the inferior orbital wall.[3] A delayed developed S curved scoliosis was noted, but the torso was balanced and compensated. [Figure 5] shows that the bilateral teratological high riding hip dislocation still persists, but the hips remain leveled and balanced. There is a gap of 1 mm at the right foot tibiocalcaneal fusion site which is considered to be nonunion or pseudoarthrosis. [Figure 6] shows the suspicion of impingement at the anterior tibial plafond and navicular bone on the standing view of the left foot.
Figure 5: Radiograph of the severe S-curve scoliosis and bilateral high riding teratological dislocation

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Figure 6: Radiograph of the postsurgical correction teratological clubfoot

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  Discussion Top


Diagnosis was made by its characteristic presentation and dysmorphic status, combining the skeletal anomalies and arthrogryposis. Since no family history is noted, the case was considered to be a sporadic mutation. Due to its rarity and variability, there is no standard management protocol for the teratological deformity so far. Arthrogrypotic conditions are usually resistant to treatment and require multiple, extensive interventions and plastic reconstructive operations. To the best of our knowledge, this is the case report of FSS after treatment for the skeletal deformities and with the longest follow-up duration.

In the treatment of windmill vane hand in FSS, the basic principles are commonly adapted from the treatment of other complex hand problems.[4] Splinting is usually started from the earliest age possible to optimize the position of the fingers and release of the first web space. If surgical treatment is necessary, it was suggested that the treatment should start before the patient is 3 years old to minimize the development of skeletal deformity and maladaptive learning behaviors. However, risk of malignant hyperthermia appears to be higher in candidates undergoing the operation in younger age.[5] The surgery in arthrogrypotic hand can grossly be categorized into 4 steps: (1) Thumb–Web Space release, (2) Thumb Flexion Contractures release, (3) Thumb Opposition restore, and (4) Finger alignment correction. In most patients with FSS, the adducted contracture thumbs are usually the major problem.[4]

The involvement of the hip is very common in disorders with arthrogryposis, including soft tissue contractures, joint subluxation, and even dislocation. Hip dislocation may be unilateral or bilateral, with similar incidence. For unilateral dislocations, surgical treatment for the aim of obtaining a leveled pelvis is suggested.

Anterior approach to the hip for open reduction is more common, since the dislocated femoral head usually rides high on the ilium. If tension by contracture persists after soft-tissue release and joint reduction, femoral varus derotational osteotomy, or proximal femoral shortening osteotomy is indicated.[6],[7],[8]

The management for cases of bilateral hip dislocations is controversial. To achieve bilaterally reduced and balanced hips with surgical treatment at an operation is extremely difficult. Patients with bilateral dislocations may sometimes associate with a symmetrical and balanced pelvis and may not interfere with walking. Our case demonstrates that a symmetrical and balanced pelvis play a role in the decision of operation. However, in a study by Clair and Zimbler,[7] children with arthrogryposis and bilateral hip dislocations can be divided into two groups: (1) Severe hip stiffness and severe muscle weakness and involvement of the upper limbs. The ambulatory potential is low, so reduction of the hip will not be suggested. (2) Greater hips mobility and lesser involvement of upper limbs. In this group of patients, recovering back to an ambulatory status after reduction is promising. Hence, reduction of the hip should be attempted.

The treatment of arthrogrypotic clubfoot deformity is also controversial. Many different procedures have been advocated, with variable success rates. This kind of clubfoot have high recurrence rate, regardless of the treatment type. High recurrence rate has led to a high repeat surgery rate, and poor outcomes. Manipulation and casting using Ponseti's method with or without percutaneous Achilles' tenotomy have successfully treated lots of idiopathic clubfoot patients. It is usually inadequate in most of the arthrogrypotic cases. In this kind of circumstances, major decisions of the open procedures include soft-tissue releases, talectomy, or tarsal decancellation. Soft-tissue releases can be used as a preliminary procedure; however, it is insufficient alone in most of the cases to correct the deformity.

Talectomy relaxes the contracture of the hindfoot and midfoot, allowing immediate plantigrade positioning of the foot. It has been recommended as primary or salvage operation, especially in revision cases. Tibiocalcaneal and calcaneocuboid fusion combined with talectomy also can be done to improve the patients' overall functional outcome and residual pain with decreased rates of recurrent deformity in the scene of severe rigid clubfoot. Most studies[9],[10] reported good outcomes in the short and medium follow-up. The longest follow-up case series of patients undergoing talectomy for recurrent equinovarus deformity with a mean of 20 years[10] demonstrated fair to good results in 75% of the patients.

In conclusion, our experience in a rare case of FSS suggests that the major goal of treatment is to provide the patient with a leveled hip and plantigrade foot for chances of standing. For the teratological clubfoot, radical soft tissue release with talectomy could obtain a plantigrade foot. For the teratological bilateral hip dislocation, if a leveled pelvis could be maintained, conservative treatment seems adequate. Both plantigrade foot and leveled pelvis could contribute to a patient's ambulation function in the long run.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Freeman EA, Sheldon JH. Cranio-carpotarsal dystrophy: Undescribed congenital malformation. Arch Dis Child 1938;13:277-83.  Back to cited text no. 1
    
2.
Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics 2006;117:754-62.  Back to cited text no. 2
    
3.
Jacobson A, Page W. Caufield: Introduction to Radiographic Cephalometry. Philadelphia, Pennsylvania: Lea and Febiger; 1985. p. 15-6.  Back to cited text no. 3
    
4.
Kalliainen LK, Drake DB, Edgerton MT, Grzeskiewicz JL, Morgan RF. Surgical management of the hand in Freeman-Sheldon syndrome. Ann Plast Surg 2003;50:456-62.  Back to cited text no. 4
    
5.
Kay SP. The Windblown hand. In: The Growing Hand Diagnosis and Management of the Upper Extremity in Children. 1st ed. London: Mosby; 2000.  Back to cited text no. 5
    
6.
Akazawa H, Oda K, Mitani S, Yoshitaka T, Asaumi K, Inoue H. Surgical management of hip dislocation in children with arthrogryposis multiplex congenita. J Bone Joint Surg Br 1998;80:636-40.  Back to cited text no. 6
    
7.
St Clair HS, Zimbler S. A plan of management and treatment results in the arthrogrypotic hip. Clin Orthop Relat Res 1985;(194):74-80.  Back to cited text no. 7
    
8.
Huurman WW, Jacobsen ST. The hip in arthrogryposis multiplex congenita. Clin Orthop Relat Res 1985;(194):81-6.  Back to cited text no. 8
    
9.
Cassis N, Capdevila R. Talectomy for clubfoot in arthrogryposis. J Pediatr Orthop 2000;20:652-5.  Back to cited text no. 9
    
10.
Legaspi J, Li YH, Chow W, Leong JC. Talectomy in patients with recurrent deformity in club foot. A long-term follow-up study. J Bone Joint Surg Br 2001;83:384-7.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]



 

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