Arthrogryposis: Diagnosis and Therapeutic Planning for Patients Seeking Orthodontic Treatment or Orthognathic Surgery Patricia Valeria Milanezi Alves, DDS, MS,*1 Linping Zhao, PhD,2 Pravin K. Patel, MD,12 Ana Maria Bolognese, DDS, MS, PhD* Rio de Janeiro, Brazil

Arthrogryposis is the name given to a group of musculoskeletal disorders characterized by multiple joint contractures through the body that are present at birth. There are many causes for congenital limitations of the range of motion of a joint. However, the most common form of arthrogryposis, present in 40% of patients, is a condition called amyoplasia. In many patients, abnormal nerve, muscle, and connective tissue development is involved. Hands, wrists, elbows, shoulders, hips, feet, knees, back, and jaws are affected. Because of the complexity of tissue alterations and implications in normal facial growth, the authors of this article address the aspects related to clinical manifestations and therapeutic planning for patients with this condition who seek orthodontic treatment or orthognathic surgery. Key Words: Arthrogryposis, orthodontic treatment, orthognathic surgery

A

rthrogryposis is the name given to a group of musculoskeletal disorders characterized by multiple joint contractures through the body that are present at birth. It is not a single disease but a spectrum of congenital deformities that can be the end result of more than 150 different medical syndromes, each with its own cause and its own long-term outlook, but all causing multiple joint contractures.1

From the *Federal University of Rio de Janeiro, Rio de Janeiro, Brazil; 1The Craniofacial Center at University of Illinois at Chicago; and 2Shriners Hospitals for Children, Northwestern University, Chicago, Illinois. Address correspondence and reprint requests to Patricia Valeria Milanezi Alves, DDS, MS, Rua Tonelero, n.191/806. Copacabana, Rio de Janeiro, RJ, Brazil, 22030-000; E-mail: [email protected]; [email protected]

Incidence of arthrogryposis is relatively rare. In the United States, it occurs approximately one in every 3,000 live births and affects both males and females of all ethnic backgrounds.2 The literature presents as many as 10 to 20 different arthrogrypotic disorders. However, the most common form of arthrogryposis multiplex congenita (AMC) is amyoplasia, which accounts for more than 40% of children with arthrogryposis.3,4 When a patient with this condition needs orthodontic treatment or orthognathic surgery, the practitioner involved should understand the disease and the respective treatment because of the complexity of tissue alterations and implications in normal facial growth. In consideration of such a necessity, the authors of this article address the aspects related to arthrogryposis as given in the current literature, thus guiding both diagnosis of clinical manifestations and therapeutic planning for patients who seek orthodontic treatment. ETIOLOGY

T

he cause of arthrogryposis is varied and not entirely understood.5 In most cases, AMC is not a genetic condition. However, in approximately 30% of the cases, a genetic cause can be identified. Environmental factors, such as drugs, alcohol, or phenytoin (Dilantin), do play a part in many cases.6Y13 Typically, AMC is a result of problems with joint growth and development, decreased fetal movement, or problems with spinal development in the first 3 months of pregnancy. In normal embryonic development, the joints begin to develop by approximately 5 to 6 weeks of gestation. This motion of joints is essential to their proper development and the structures around them.14 The joint itself may be normal; however, when a joint is not moved for a period of time, extra connective tissue tends to develop around it, fixing it in place. Lack of joint movement also results in tendons connected to the

838

Copyright @ 2007 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.

ARTHROGRYPOSIS / Alves et al

joint not stretching to their normal length. Short tendons make normal joint movement difficult. The same kind of problem can develop after birth in joints that are immobilized for long periods of time.15 The causes for limitation of joint movement before birth may be malformations or malfunctions of the central nervous system, such as spina bifida (meningomyelocele), brain malformations, or spinal muscular atrophy.16,17 AMC can appear when muscles do not develop properly or in cases of agenesis. Suspected causes for muscular atrophy include congenital muscular dystrophies, maternal fever during pregnancy (above 39-C or 102.2-F for an extended period), prenatal viruses such as German measles (rubeola), which may damage cells that transmit nerve impulses to the muscles, or by infection of the fetus by a virus with neuromyal tropism (e.g., coxsackie).4 When there is insufficient room in the uterus for normal movement, AMC can also develop. The mother may lack the normal amount of amniotic fluid or have an abnormally shaped uterus.18 The hypothesis that arthrogryposis is caused by immobilization of fetal limbs during the period of formation of joints received support from the findings of studies of arthrogryposis in the offspring of women who received tubocurarine in early pregnancy for treatment of tetanus.14,15,19 CHARACTERISTICS

I

n some cases, only a few joints may be affected, and the range of motion may be nearly normal. In more severe cases, nearly every body joint may be involved, including the jaws and back.20Y24 In regard to the oral cavity and face as it pertains to this condition, a review of the literature describes microgenia, facial asymmetry, limited mobility in temporomandibular joints (TMJ), periodontal disease, cleft palate, high-arched palate, open-bite, facial muscle weakness, and delayed teething.25Y27 Orthodontic treatment is difficult because of limited mandible abduction and limited lateral movements.28 Patients with AMC should undergo intensive prophylactic procedures because their dental treatment may be very complicated.29 Guimaraes and Marie30 studied the cause of limited mouth movement in affected individuals. The findings were small mandibles and contractures. Magnetic resonance imaging (MRI) examinations showed anterior disk displacement. Threedimensional computed tomography (3D-CT) scans showed normal anatomic TMJ, with hyperplasia of coronoid process protruding into the infratemporal

fossa or beneath the zygomatic arch, leading to a mechanical limitation of mouth opening. TMJ was normal, and the restriction of mouth movement was a consequence of osseous dysplasia. Hodgson et al27 suggested in their study that clinical findings observed during surgery to alleviate the limited mandibular opening can differ from those classically associated with other joints, suggesting that a different pathophysiologic mechanism may be involved. DIAGNOSIS

D

iagnosis is made by ruling out other causes. Muscle biopsies, blood tests, and clinical findings help rule out other possible disorders and provide evidence for arthrogryposis.31,32 AMC can sometimes be diagnosed during pregnancy. Ultrasounds at approximately 20 weeks gestation may show an abnormal position of joints or lack of joint movement. Alternatively, the diagnosis can be made on the basis of clinical symptoms and findings. The specific subtype can often be pinpointed with radiographs. Sometimes, an electrical nerve or muscle conduction study is necessary. CT scan or MRI can identify any central nervous system abnormalities or myopathic forms and may provide important information.33 Szabo and Perjes34 studied differential diagnoses between AMC and Larsen’s syndrome. The latter is characterized by multiple congenital subluxations and hyperteloric facies appearance. The radiographic findings showed additional ossification centers. This syndrome is inherited as sporadic, autosomal recessive, or dominant.35Y38

TREATMENT

T

reatment of arthrogryposis should not be undertaken by a single specialty but by a multidisciplinary team, including an orthodontist.39 The aim of treatment is to improve function. Through physical therapy and other available treatments, substantial improvement is normally possible by stretching out the contracted joints, developing the weak muscles, and increasing the range of motion. Parents are encouraged to become active participants by continuing their child’s therapy at home on a daily basis.40 Orthopedic surgery may also relieve or correct joint problems. However, therapy and bracing is always attempted before any consideration of surgical correction.41 Treatment of TMJ problems through bilateral coronoidotomy surgery, right and left meninscectomy, capsular release, and lateral pterygoid myotomies are elective choices.42 In cases of 839

Copyright @ 2007 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.

THE JOURNAL OF CRANIOFACIAL SURGERY / VOLUME 18, NUMBER 4

permanent constriction of the jaw, mechanicotherapy is essential after orthognathic surgery and specialized electronic apparatus to maintain mobility of the TMJ has been described by Ginstry et al.43 It is necessary to develop muscle strength with early stimulation of movement, and periods of immobilization should be minimized.44 Robinson45 described a high proportion of major feeding difficulties in infants when individuals with AMC were studied. These difficulties were related to structural abnormalities of the jaw and tongue. In this work, the author suggested that early identification of children with AMC is necessary and requires continuing therapy from a number of specialists. Despite the recommendation of physical therapy to improve function, the literature does not relate the importance of orthodontic evaluation and monitoring from early childhood for development of problems. The lifespan of an individual with arthrogryposis is usually long, but it may be altered by heart defects or central nervous system problems. Fortunately, AMC is not a progressive disorder.46Y48 CLINICAL REPORT Patient 1

K

S is a 13-year-old white female with the diagnosis of arthrogryposis who was referred by a private orthodontist for orthodontic treatment to The Craniofacial Center at the University of Illinois at Chicago. She presented with problems in the alignment of facial bones and teeth, enamel demineralization, clubbed feet, short stature, T3 to L5 spinal fusion, compromised walk, and developmental dysplasia of the right hip. Physical examination revealed normal morphology of the forehead, orbits, and external nose. Hypoplasia of the left face

July 2007

involving the midface and lower face was identified. Dentally, the patient presented with full permanent dentition, with the lower jaw deviated to the right upon closure. There was limited opening of the lower jaw, with a maximal incisal opening of approximately 35 mm. This condition plus the limitation of hand movement made oral hygiene difficult. A 3D-CT scan demonstrated hypoplasia of the left ramus and deformity of the body of the mandible, particularly on the left side. This results in deformity of the floor of the mouth and deformity of the mylohyoid muscles and anterior bellies of the digastric muscles. The patient has multiple dentofacial problems, which require coordination between different team members, including a plastic surgeon, oral surgeon, orthodontist, general dentist, oralmotor speech pathologist, clinical psychologist, and physical therapist. The treatment objectives are continuing treatment for deformed legs, scoliosis, and hip dysplasia; speech therapy; correction of dental and skeletal malocclusions including mandibular prognathism, deviation, and asymmetry with surgery; and correction of the occlusal plane cant with maxillary surgery (Figs 1A, 2, and 3C). Patient 2 TB is a 5-year-old African-American female with a history of arthrogryposis and muscle rigidity who was referred for orthodontic evaluation by the oral surgeon. She walks with difficulty and presented with hip dysplasia and clubfeet. Examination revealed an orthognathic convex profile, with symmetrical frontal facial appearance. Dentally, she has mixed dentition, with mild generalized gingivitis, dental caries, and tendency for an anterior crossbite. Maximum opening of month is decreased. The treatment objectives are improvement of motion of joints with physical therapy, with an emphasis on attempting to increase

Fig 1 (A) Patient has limitations to position of head in normal alignment. Face is asymmetrical with deviated horizontal alignment of eyes and marked mandibular deviation to right side. (B) Right profile is orthognathic, straight to slightly convex. Good lip balance. (C) Left profile picture. Appearance is different from right profile.

840

Copyright @ 2007 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.

ARTHROGRYPOSIS / Alves et al

Fig 2 (A) When in maximum intercuspation, there is lateral crossbite on right side with lower midline deviation that appears essentially a result of asymmetry in mandible. (B) Right side reveals class I malocclusion, deep curve of Spee, and enamel and periodontal problems. (C) Left side reveals class III malocclusion.

opening of the month, and monitoring of facial and dental growth (Figs 4A and 5). DISCUSSION

T

issue alterations secondary to arthrogryposis may be adequate to change the dynamic growth, resulting in a loss of facial growth equilibrium as expressed at various adaptive growth sites. Disharmony between functional TMJ components can be considered a local environmental disturbance with the potential to affect condylar development.49Y52 In other words, a functional environment and muscle action are important in the development of condylar cartilage and the mandible.53 Nebbe et al54 reported craniofacial deformities in patients with internal derangement in the left or right TMJ. In this study, a reduction in the ramus height and a compensatory adaptation in the maxillary dentoalveolar region were observed. The 3D-CT scan in the first case reported in the present study confirms this finding. The findings related to the dimensions of the ramus and body of the mandible

suggest that loss of mobility on the left side was more significant and probably interfered with the normal development of all structures of the corresponding hemiface. In accordance with Hodgson et al27 and Guimaraes and Marie,30 3D-CT examinations of our first patient showed that the mandibular condyles were symmetric, and there were no translatory or rotational movements of the head of the mandible. This suggests that a different pathophysiologic mechanism in the decrease of the range of movement of the joint may be involved. The authors find that early identification of arthrogryposis is of extreme importance, and it is necessary to start functional therapy and multidisciplinary care as soon as possible to prevent further problems, such as those given by Robinson.45 CONCLUSIONS

B

ecause of the complexity of the facial and associated problems, a multidisciplinary approach is recommended to provide optimal functional and aesthetic results in cases of AMC.

Fig 3 (A) Three-dimensional computed tomography (3D-CT) scan shows asymmetry of mandible. Also, it is possible to observe abnormal development in maxilla and other structures in midface. (B) Right side of mandible. (C) 3D-CT scan showing hypoplasia of left ramus and deformity of body of mandible.

841

Copyright @ 2007 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.

THE JOURNAL OF CRANIOFACIAL SURGERY / VOLUME 18, NUMBER 4

July 2007

Fig 4 (A) Frontal view showing symmetry. (B) Right profile is orthognathically convex.

Monitoring of facial growth and development should be done so that problems can be identified early and better results achieved. The cases reported here demonstrate the variable dentofacial expressions of patients with a history of AMC. The importance of performing a thorough clinical investigation for differential diagnosis is highlighted given the overlapping features involving tissue alterations and interference of normal growth. Usual treatments include stretching, strengthening, and independent functioning of joints while attempting to integrate the therapy as much as possible into the patients’ normal activities. The patients should be investigated not only for joint complications but also for possible breathing, feeding, speech, occlusal, and aesthetic problems related to their disorder. Appropriate counseling on issues such as risks, prognosis,

Fig 5 Intraoral picture showing decreased opening of mouth secondary to limitation of temporomandibular joint function.

and management of this condition should be undertaken. REFERENCES 1. Burglen L, Amiel J, Viollet L, et al. Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. J Clin Invest 1996;98:1130Y1132 2. Pakkasjarvi N, Ritvanen A, Herva R, et al. Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposis in Finland: an epidemiological study. Am J Med Genet A 2006;140:1834Y1839 3. Hall JG, Reed SD, Driscoll EP. Part I. Amyoplasia: a common, sporadic condition with congenital contractures. Am J Med Genet 1983;15:571Y590 4. Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatric Orthop 1997;6:159Y166 5. Gustavson K-H, Jorulf H. Recurrence risks in a consecutive series of congenitally malformed children dying in the perinatal period. Clin Genet 1976;9:307Y314 6. Weissman SL, Khermosh C, Adam A. Arthrogryposis in an Arab family. In: Goldschmidt E, ed. Genetics of Migrant and Isolate Populations. Baltimore, MD: Williams and Wilkins, 1963:313 7. Lebenthal E, Shohet SB, Adam A, et al. Arthrogryposis multiplex congenita: 23 cases in an Arab kindred. Pediatrics 1970;46:891Y899 8. Crowe MW, Pike HT. Congenital arthrogryposis associated with ingestion of tobacco stalks by pregnant sows. J Am Vet Med Assoc 1973;162:453Y455 9. Rosenmann A, Arad I. Arthrogryposis multiplex congenita: neurogenic type with autosomal recessive inheritance. J Med Genet 1974;11:91Y94 10. Lacassie Y, Sack GH Jr, McKusick VA. An autosomal dominant form of arthrogryposis multiplex congenita (AMC) with unusual dermatoglyphics. Birth Defects Orig Art Ser 1977;XIII:246Y247 11. Lotan R, Magal N, Shohat T, et al. Mapping of a gene for mild arthrogryposis multiplex congenita-neuropathic type between D5S425 and D5S2108 on chromosome 5qter. Am J Hum Genet 1997;61:A13 12. Tanamy MG, Magal N, Halpern GJ, et al. Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic

842

Copyright @ 2007 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.

ARTHROGRYPOSIS / Alves et al

13. 14. 15. 16. 17.

18. 19. 20. 21. 22. 23. 24. 25. 26. 27. 28. 29. 30. 31. 32. 33. 34.

type between D5S394 and D5S2069 on chromosome 5qter. Am J Med Genet 2001;104:152Y156 Magal N, Lotan R, Shohat T, et al. A gene for arthrogryposis multiplex congenita-neuropathic is linked to D5S394 on chromosome 5qter. Med Genet 1997;9:9 Drachman DB, Banker BQ. Arthrogryposis multiplex congenita: case due to disease of the anterior horn cells. Arch Neurol 1961;5:77Y93 Drachman DB, Coulombre AJ. Experimental clubfoot and arthrogryposis multiplex congenita. Lancet 1962;2:523Y526 Roberts JA. The inheritance of a lethal muscle contracture in sheep. J Genet 1929;21:57Y69 Krugliak L, Gadoth N, Behar AJ. Neuropathic form of arthrogryposis multiplex congenita: report of 3 cases with complete necropsy, including the first reported case of agenesis of muscle spindles. J Neurol Sci 1978;37:179Y185 Suryawanshi C, Panditrao MM, Panditrao MM, et al. Arthrogryposis multiplex congenita-a rare congenital anomaly. J Indian Med Assoc 2006;104:95Y96. 98 Jago RH. Arthrogryposis following treatment of maternal tetanus with muscle relaxants: case report. Arch Dis Child 1970;45:277Y279 Hageman G, Willemse J. Arthrogryposis multiplex congenita. Review with comment. Neuropediatrics 1983;14:6Y11 Donohue M, Bleakney DA. Arthrogryposis multiplex congenita. In: Campbell SK, ed. Physical Therapy for Children. Philadelphia: WB Saunders, 1995:261Y277 Shohat M, Lotan R, Magal N, et al. A gene for arthrogryposis multiplex congenita neuropathic type is linked to D5S394 on chromosome 5qter. Am J Hum Genet 1997;61:1139Y1143 Sivaci R, Balci C, Maralcan G, et al. Management of difficult airway in a child with arthrogryposis multiplex congenita during general anesthesia. Saudi Med J 2005;26:1657Y1659 Cohen SR, Isaacs H Jr. Otolaryngological manifestations of arthrogryposis multiplex congenita. Ann Otol Rhinol Laryngol 1976;85:484Y490 Hall JG, Truog WE, Plowman DL. A new arthrogryposis syndrome with facial and limb anomalies. Am J Dis Child 1975;129:120Y122 Sakamoto FO, Claman L, Klabunda M, et al. Management of arthrogryposis multiplex congenita. A case report. J Periodontol 1985;56:694Y698 Hodgson P, Weinberg S, Consky C. Arthrogryposis multiplex congenita of the temporomandibular joint. Oral Surg Oral Med Oral Pathol 1988;65:289Y291 Steinberg B, Nelson VS, Feinberg SE, et al. Incidence of maxillofacial involvement in arthrogryposis multiplex congenita. J Oral Maxillofac Surg 1996;54:956Y959 Mielnik-Blaszczak M, Borowska M. Arthrogryposis multiplex congenita (AMC)-case report. Ann Univ Mariae Curie Sklodowska 2002;57:437Y441 Guimaraes AS, Marie SK. Dominant form of arthrogryposis multiplex congenita with limited mouth opening: a clinical and imaging study. J Orofac Pain 2005;19:82Y88 Swinyard CA. Multiple congenital contractures (arthrogryposis): nature of the syndrome and hereditary considerations. Proc Second Int Cong Hum Genet 1963;3:1397Y1398 Laitinen O, Hirvensalo M. Arthrogryposis multiplex congenita. Ann Paediat Fenn 1966;12:133Y138 Roscam Abbing PJ, Hageman G, Willemse J. CT-scanning of skeletal muscle in arthrogryposis multiplex congenita. Brain Dev 1985;7:484Y491 Szabo L, Perjes K. Differential diagnosis between arthrogry-

35.

36. 37. 38. 39. 40. 41. 42. 43. 44. 45. 46. 47. 48. 49. 50.

51.

52. 53.

54.

posis multiplex congenita and Larsen´s syndrome. Z Orthop Ihre Greszgeb 1974;112:1275Y1281 Azimi F, Edeiken J, Macewen GD. Larsen´s syndrome: congenital dislocation of multiple large joints of the extremities associated with an unusual flat facies. Australas Radiol 1974;18:333Y335 Robertson FW, Kozlowski K, Middleton RW. Larsen´s syndrome. Clin Pediatr 1975;14:52Y60 Galanski M, Statz A. Radiological findings in Larsen´s syndrome. Rofo 1978;128:534Y537 Renault F, Arthuis M, Rethore MO, et al. Larsen´s syndrome. Clinical findings and inheritance. Arch Fr Pediatr 1982;39: 35Y38 Epstein JB, Wittenberg GJ. Maxillofacial manifestations and management of arthrogryposis: literature review and case report. J Oral Maxillofac Surg 1987;45:274Y279 Frischknecht W, Bianchi L, Pilleri G. Familiaere Arthrogryposis multiplex congenita. Helv Paediat Acta 1960;15:259Y279 Pena CE, Miller F, Budzilovich GN, et al. Arthrogryposis multiplex congenita: report of two cases of a radicular type with familial incidence. Neurology 1968;18:926Y930 Thomas JA, Chiu-Yeh M, Moriconi ES. Maxillofacial implications and surgical treatment of arthrogryposis multiplex congenita. Compend Contin Educ Dent 2001;22:588Y592 Ginisty D, Piral T, Adamsbaum C, et al. Permanent constriction of the jaws in children: 3 cases with extra-articular etiology. Rev Stomatol Chir Maxillofac 1996;97:47Y52 Kroksmark AK, Kimber E, Jerre R, et al. Muscle involvement and motor function in amyoplasia. Am J Med Genet A 2006; 140:1757Y1767 Robinson RO. Arthrogryposis congenita; feeding, language and other health problems. Neuropediatrics 1990;21:177Y179 Jaber L, Weitz R, Bu X, et al. Arthrogryposis multiplex congenita in an Arab kindred: update. Am J Med Genet 1995; 55:331Y334 Ek JI. Cerebral lesions in arthrogryposis multiplex congenita. Acta Paediat 1958;47:302Y316 Hall JG. Amyoplasia, the most common type of Arthrogryposis: the potential for good outcome. Pediatrics 1996;97: 225Y231 Dolwick MF, Riggs RR. Diagnosis and treatment of internal derangements of the temporomandibular joint. Dent Clin North Am 1983;27:561Y572 Larheim TA, Haanaes HR. Micrognathia, temporomandibular joint changes and dental occlusion in juvenile rheumatoid arthritis of adolescents and adults. Scand J Dent Res 1981; 89:329Y338 Stabrun AE. Impaired mandibular growth and micrognathic development in children with juvenile rheumatoid arthritis. A longitudinal study of lateral cephalographs. Eur J Orthod 1991;13:423Y434 Bjork A. Facial growth in bilateral hypoplasia of the mandibular condyles. In: Kraus BS, Riedel RA, eds. Vistas in Orthodontics. Philadelphia: Lea and Febiger, 1962:104Y140 Petrovic A, Stutzmann JJ, Oudet CL. Control processes in the postnatal growth of the condylar cartilage of the mandible. In: McNamara JA Jr, ed. Determinants of Mandibular Form and Growth, Monograph 4, Craniofacial Growth Series. Ann Arbor: Center for Human Growth and Development, The University of Michigan, 1975 Nebbe B, Major PW, Prasad NG, et al. TMJ internal derangement and adolescent craniofacial morphology: a pilot study. Angle Orthod 1997;67:407Y414

843

Copyright @ 2007 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.