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 Table of Contents  
CASE REPORT
Year : 2015  |  Volume : 8  |  Issue : 1  |  Page : 54-57

Congenital pseudarthrosis of clavicle: A rare presentation


Department of Orthopaedics, All Institute of Medical Sciences, Raipur, Chhattisgarh, India

Date of Web Publication13-Jun-2016

Correspondence Address:
Alok C Agrawal
Department of Orthopaedics, All India Institute of Medical Sciences, Raipur, Chhattisgarh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-7341.183947

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  Abstract 

Congenital pseudarthrosis of the clavicle (CPC) is a rare malformation of unknown etiology. Not many cases are reported in the literature so far. The child is usually asymptomatic and presents with a swelling in the midportion of the clavicle. The diagnosis can be confirmed by X-rays. Surgical treatment is indicated in symptomatic patients or those with major deformity. We present a case of the right side CPC in a 16-year-old female patient managed surgically in our hospital. Patients with CPC usually present early due to cosmetic deformity, but our patient presented quite late due to negligence. Surgical treatment was performed, with resection of fibrous pseudoarthrosis, internal fixation with locking compression plate, and iliac bone graft. CPC should be included in the differential diagnosis of clavicle abnormalities in children. Good results can be achieved with surgical techniques in patients with indication.

Keywords: Clavicle, congenital, pseudoarthrosis


How to cite this article:
Agrawal AC, Sahoo B, Sakle H. Congenital pseudarthrosis of clavicle: A rare presentation. J Orthop Traumatol Rehabil 2015;8:54-7

How to cite this URL:
Agrawal AC, Sahoo B, Sakle H. Congenital pseudarthrosis of clavicle: A rare presentation. J Orthop Traumatol Rehabil [serial online] 2015 [cited 2019 Nov 13];8:54-7. Available from: http://www.jotr.in/text.asp?2015/8/1/54/183947


  Introduction Top


Congenital pseudarthrosis of the clavicle (CPC) was first described by FitzWilliams in his series of cases demonstrating hereditary craniocleidodysostosis (HCD) in 1910.[1] He described an 8-year-old girl with a defect in her right clavicle but without any other skeletal manifestation. Saint-Pierre reported the second case in a female patient having right side CPC in 1930 diagnosed shortly after birth.[2] Patients most commonly present as a painless, cosmetically unappealing mass which occurred over the right clavicle.[3] Radiographic analysis reveals a separation in the mid-third of the clavicle with both fragments characteristically having round, smooth edges.[3]

According to Hans,[4] hormonal or environmental disruption of the developing clavicular bud results in CPC. Since both clavicles are not affected equally and there are no other systemic manifestations, he felt that mutational changes in genes could not be responsible. The pathological findings at surgery have been described by Alldred [5] and Jinkins [6] as a true pseudarthrosis with cartilage covering the bone ends. Synovial fluid is present in the capsule encasing the pseudarthrosis. The sternal end is always larger than the acromial end, and the pseudarthrosis is usually located lateral to the center of the right clavicle.

The etiology is unknown;[5],[7] one hypothesis suggests that the subclavian artery may compress the developing right clavicle, which might explain the predominance of the right-sided lesions and the occurrence of the left-sided lesions in association with dextrocardia. Bilateral involvement is rare.[8],[9] Another hypothesis is that the pseudarthrosis is caused by the failure of two ossification centers to fuse.

The differential diagnosis of CPC includes HCD, birth fracture, nonunion of a fractured clavicle, and neurofibromatosis. HCD is a familiar disorder first described by Martin in 1765 and is characterized by defects in ossification of the membranous bones. The commonly described skeletal manifestations are clavicular and pelvic ring abnormalities in development, frontal bossing, wide fontanelles, dental anomalies, and epiphyseal disorders of the hands and feet.[9] A birth fracture is usually associated with limited and painful shoulder-girdle motion and often manifests as a pseudoparalysis of the upper limb. Exuberant callus formation occurs with a birth fracture that persists as a nonunion. The fracture is usually of the greenstick type and associated with a difficult labor. Pseudarthrosis of the long bones occurs in patients with neurofibromatosis or von Recklinghausen disease. The tibia is the most common site of pseudarthrosis in neurofibromatosis. Radiographic examination reveals tapered bone fragments with sclerotic edges in contrast to the large smooth ends found in CPC. Other manifestations such as Café au lait spots and extraosseous tumors help to establish the diagnosis of neurofibromatosis.[10]

Children with CPC often have a prominent middle third of the right clavicle at birth or soon thereafter; the prominence may increase with age.[2],[3],[5] The pseudarthrosis is usually not painful, and shoulder range of motion is normal. Radiographs of the pseudarthrosis reveal an osseous separation with enlarged, rounded bone ends, and a distinctive absence of fracture callus.


  Case Report Top


We present this case as this disorder is rare, with the right side predominance as per the literature. The late presentation in this case is due to the misguidance and negligence initially. We had achieved good results surgically as mentioned in the literature.

A 16-year-old female patient presented to us with a chief complaint of cosmetically unappealing type of deformity over the right clavicle [Figure 1]. This deformity was noticed by her parents just after birth but had not undergone any form of treatment till the presenting age. There was no history of birth trauma. On initial clinical examination, there was deformity present on the middle one-third of the right clavicle. It was nontender [Figure 1], cosmetically unappealing mass with full range of motion of the right shoulder and the distal neurovascular status was normal. The patient also had deformed nails in both hands [Figure 2]. There was no evidence of any deformity on other parts of the body. On radiological examination, pseudarthrosis of the right middle third of clavicle was seen [Figure 3]. After preanesthetic check-up and proper counseling, the patient was posted for elective surgery. Initially, the clavicle was exposed followed by excision of pseudarthrosis, fixation with precontoured locking compression plate of the clavicle, and bone grafting was done [Figure 4], [Figure 5], [Figure 6], [Figure 7]. The perioperative and postoperative courses were uneventful. Assisted shoulder range of movement was started from the postoperative day 3. The patient regained her shoulder preoperative range of movements in 6-8 weeks postoperatively.
Figure 1: Clinical appearance of congenital pseudarthrosis of clavicleon the right side

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Figure 2: Associated congenitally hypoplasia of nails in both hands

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Figure 3: X-ray chest P A view showing congenital pseudarthrosis of the clavicle on right side

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Figure 4: Intraoperative photograph showing pseudarthrosis of clavicle

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Figure 5: Fixation with precountered clavicle plate

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Figure 6: Appearance of the wound after closure

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Figure 7: Postoperative X-ray showing acceptable alignment and clacicle length following excision of pseudarthrosis and osteosynthesis with bone grafting

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  Discussion Top


CPC is a rare congenital disorder which predominently occurs on the right side. The lesion is often diagnosed and treated in childhood but clinical presentation at 16 years is still rare.

CPC may cause some limitations of shoulder girdle function. Pain or symptoms of neurovascular compression do not occur. Cosmetic disfigurement is the often prime complaint.

According to Alldred, as the deformity progressed, there will be functional limitation of ipsilateral shoulder along with cosmetically unappealing mass-associated adverse psychological effects. The degree of severity of deformity was directly related to amount of motion at pseudoarthrosis. To achieve union, bone grafting is necessary. Alldred mentioned the optimal age for grafting as being in the 2-4-year-old period.[5] In girls over 8 years of age, trimming of the mass was the only treatment recommended. Jinkins [6] also proposed early stabilization as the treatment of choice. Wall in the series of four patients stated that there is no indication of stabilization.[3]

Many complications of pseudarthrosis resection, grafting, and plating have been described, including hypertrophic scar formation, infection, nonunion, neurovascular injury, and bone graft donor site morbidity.[7],[11] Simple excision of the pseudarthrosis without bone graft or internal fixation causes the affected shoulder to droop.[7],[11]

Treatment of CPC mostly depends on the severity of the deformity, age, and sex of the child. The patients with no alteration in shoulder girdle biomechanics, and minimal cosmetic deformity, should be observed periodically. Patients demonstrate increasing mobility of the clavicular pseudarthrosis. A poor prognostic sign must be watched closely. If increased cosmetic deformities develop (especially in females) and alteration of shoulder girdle function occurs, surgical stabilization should be performed before the age of 8 years. The recommended surgery would be resection of the pseudarthrosis and stabilization by an onlay autogenous iliac bone graft and K-wire or screw fixation. The hardware should be removed after the fusion is complete. Unlike congenital pseudarthrosis of the tibia, the surgical fusion is usually successful, especially between ages 2-4 years.[5],[7],[11]


  Conclusion Top


CPC is a rare anomaly that usually occurs in the right clavicle and presents as a painless and cosmetically unappealing mass. The greater the motion at the pseudarthrosis, the greater is the cosmetic deformity. Treatment should be observation in those cases with a mild deformity and surgical resection and stabilization in those with a severe deformity.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
FitzWilliams DC. Hereditary craniocleidodysostosis. Lancet 1916; 11:466.  Back to cited text no. 1
    
2.
Kite JH. Congenital pseudarthrosis of the clavicle. South Med J 1968;61:703-10.  Back to cited text no. 2
    
3.
Wall JJ. Congenital pseudarthrosis of the clavicle. J Bone Joint Surg Am 1970;52:1003-9.  Back to cited text no. 3
    
4.
Hans G. The Genesis of Skeletal Abnormalities, 2nd International Conference on Congenital Malformations. The International Medical Congress Ltd.; 1964. p. 219-23.  Back to cited text no. 4
    
5.
Alldred AJ. Congenital pseudarthrosis of the clavicle. J Bone Joint Surg Br 1963;45-B:312-9.  Back to cited text no. 5
    
6.
Jinkins WJ Jr. Congenital pseudarthrosis of the clavicle. Clin Orthop Relat Res 1969;62:183-6.  Back to cited text no. 6
    
7.
Toledo LC, MacEwen GD. Severe complication of surgical treatment of congenital pseudarthrosis of the clavicle. Clin Orthop 1979;139:64.  Back to cited text no. 7
    
8.
Lloyd-Roberts GC, Apley AG, Owen R. Reflections upon the aetiology of congenital pseudarthrosis of the clavicle. With a note on cranio-cleido dysostosis. J Bone Joint Surg Br 1975;57:24-9.  Back to cited text no. 8
    
9.
Fairbank HA. Cranio-cleido-dysostosis. J Bone Joint Surg Br 1949;31B:608-17.  Back to cited text no. 9
    
10.
Aegerter EE. The possible relationship of neurofibromatosis, congenital pseudarthrosis, and fibrous dysplasia. J Bone Joint Surg Am 1950;32-A:618-26.  Back to cited text no. 10
    
11.
Grogan DP, Love SM, Guidera KJ, Ogden JA. Operative treatment of congenital pseudarthrosis of the clavicle. J Pediatr Orthop 1991;11:176-80.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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