eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Arthrogryposis: Differential Diagnoses & Workup

Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Contributor Information and Disclosures

Updated: Jul 28, 2009

Differential Diagnoses

Other Problems to Be Considered

Disorders characterized mainly by limb involvement10

  • Amyoplasia (classic arthrogryposis)6
    • The most common type of arthrogryposis seen in clinical practice and constitutes about one third of cases.
    • The incidence is about 1 in 10,000 live births.
    • Amyoplasia is a sporadic condition and has not been observed in siblings or offspring. 
    • The pathogenesis is thought to involve impaired blood circulation to the fetus early in pregnancy: hypotension and hypoxia damage the anterior horn cells,  resulting in a lack or underdevelopment of muscle tissue, with fatty or connective tissue replacement. 
    • Symmetrical limb involvement is noted.
    • The distinct positioning of the body includes internally rotated and adducted shoulders, fixed extended elbows, pronated forearms, and flexed wrists and fingers.
    • A severe talipes equinovarus deformity with either flexed or extended knees may be present. 
    • Hips may be flexed and externally rotated or extended and subluxated or dislocated.
    • Characteristic midline facial hemangioma is often noted.
    • Intelligence is normal.
    • Natural history of untreated amyoplasia is largely undocumented and unknown.  However, a recent study has documented a 94% rate of survival for individuals with amyoplasia at 20 years.4  Without treatment, the ambulatory and functional potential of afflicted individuals is poor.
  • Distal arthrogryposes: These involve the distal joints and include the following types and subtypes (all have autosomal dominant inheritance with reduced penetrance and variable expressivity):11
    • Type I (Distotarlar dysmorphism) - Adducted thumbs, ulnar deviation of metacarpophalangeal (MP)joints, normal facies
    • Type IIA (Freeman-Sheldon syndrome, whistling face syndrome, craniocarpal tarsal dystrophy, windmill hand) - Distinctive facies, flexion and ulnar deviation of the fingers
    • Type IIB - Distinctive facies, flexion and ulnar deviation of the fingers, vertical talus
    • Type III (Gordon syndrome) - Cleft palate, finger contractures, clubfoot
    • Type IV - Scoliosis, finger contractures
    • Type V - Limited ocular motility, ptosis, finger contractures
    • Type VI - Sensorineural hearing loss, finger contractures
    • Type VII (trismus-pseudocamptylodactyly syndrome, Hecht syndrome) - Inability to fully open mouth, facultative camptodactyly
    • Type VIII (Dominant pterygium syndrome) - Multiple pterygium, finger contractures
    • Type IX (congenital contractual arachnodactyly, Beals syndrome) - Ear deformity, finger contractures
  • Bony fusion: This is likely to be confused with arthrogryposis but includes symphalangism (ie, fusion of phalanges), coalition (ie, fusion of the carpals and tarsal bones), and synostosis (ie, fusion of long bones).
  • Contractural arachnodactyly (Beals syndrome; OMIM 121050): This is an autosomal dominant disorder. It is characterized by joint contractures; a long, thin body build; and crumpling ears. It usually lacks the cardiovascular and ocular abnormalities of Marfan syndrome.
  • Other: Other associated syndromes and conditions include absence of dermal ridges, absence of distal interphalangeal joint (DIP) creases, amniotic bands, antecubital webbing, camptodactyly, coalition, humeroradial synostosis, familial impaired pronation and supination of forearm, Liebenberg syndrome, nail-patella syndrome, Nievergelt-Pearlman syndrome, Poland anomaly, radioulnar synostosis, symphalangism, symphalangism-brachydactyly, Tel-Hashomer camptodactyly, and trismus pseudocamptodactyly.

Disorders that involve the limbs and other body parts10

  • Multiple pterygium syndrome is heterogeneous (OMIM 265000, autosomal recessive; OMIM 178100, autosomal dominant).12,13
    • The autosomal recessive type is characterized by multiple joint contractures with marked pterygia, dysmorphic facies (flat, sad, motionless facial appearance), and cervical vertebral anomalies.
    • The autosomal dominant type is characterized by multiple pterygia with or without MR.
    • Multiple pterygium syndrome, characterized by pterygia with flexion contractures, scoliosis, and cleft palate, has been reported in several families and is associated with malignant hyperthermia.
    • Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck that increases with age, webbing of the knees and elbows that develops before adolescence, multiple joint contractures, and lumbar lordosis.14
  • Lethal multiple pterygium syndrome (OMIM 253290)15
    • This is an autosomal recessive disorder characterized by early death, hydrops, cystic hygroma, dysmorphic facies (eg, hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, low-set ears), marked webbing and flexion contractures of multiple joints, short neck, small chest, and hypoplastic lungs.
    • Classification by Hall15,16 and Entezami et al17,18
      • Type I (Gillin-Pryse-Davis syndrome) - Multiple pterygia, pulmonary hypoplasia, genital anomalies, and marked flexed extremities with a reduced muscle mass
      • Type II (Chen syndrome)19 - Multiple pterygia, hygroma colli, facial anomalies, undermodeled long bones, cartilaginous fusion of joints and bony fusion of the spinous processes of the vertebrae, polyhydramnios, hypoplastic lungs and heart, and diaphragmatic hernia
      • Type III (van Regemorter syndrome) - Multiple pterygia, pulmonary hypoplasia, facial anomalies, thin extremities with reduced muscle mass, and fusions of the long tubular bones
      • Type IV (Herva syndrome) - Multiple pterygia, degeneration of the anterior horn cells of the spinal cord, and observed particularly in Finland
  • Popliteal pterygium syndrome (OMIM 119500): This is an autosomal dominant disorder characterized by popliteal webs, cleft lip or palate, webs in the mouth, and unusual nails.
  • Lethal popliteal pterygium syndrome (OMIM 263650): This is also known as Bartsocas-Papas syndrome and is an autosomal recessive disorder characterized by severe webs across the knee. In the newborn period, it is associated with facial clefting and fused digits (synostosis of the hand and foot bones). It is usually lethal.
  • Freeman-Sheldon syndrome (OMIM 193700): This is also known as whistling face syndrome and is an autosomal dominant disorder. It is characterized by a masklike face with a small mouth, giving a whistling face appearance; deep-set eyes; small nose with a broad nasal bridge; epicanthal folds; strabismus; high arched palate; small tongue; an H-shaped cutaneous dimpling on the chin; flexion of fingers; equinovarus feet with contracted toes; kyphosis; scoliosis; and other anomalies.20
  • Osteochondrodysplasias: This is known to have associated congenital contractures, including metatropic dysplasia, perinatal lethal osteogenesis imperfecta, parastremmatic dysplasia, Jansen metaphyseal dysplasia, Saul-Wilson syndrome, geleophysic syndrome, synspondylism, spondyloepiphyseal dysplasia congenita, and otospondylomegaepiphyseal dysplasia.
  • Other: Other associated syndromes and conditions include focal femoral dysplasia, hand-muscle wasting and sensorineural deafness, Holt-Oram syndrome, Kuskokwim syndrome, Larsen dysplasia, leprechaunism, megalocornea with multiple skeletal anomalies, Möbius syndrome, nemaline myopathy, oculodentodigital syndrome, ophthalmomandibulomelic dysplasia, orocraniodigital syndrome, otopalatodigital syndrome, Pfeiffer syndrome, Prader-Willi habitus/osteoporosis/hand contractures, pseudothalidomide syndrome, Puretic-Murray syndrome, sacral agenesis, Schwartz-Jampel syndrome, tuberous sclerosis, VATER (vertebral [defects], [imperforate] anus, tracheoesophageal [fistula], radial and renal [dysplasia]) complex, Weaver syndrome, Winchester syndrome, and X-trapezoidocephaly with midfacial hypoplasia and cartilage abnormalities.

Disorders with limb involvement and CNS dysfunction10

  • Associated chromosome abnormalities include 45,X; 47,XXY; 48,XXXY; 49,XXXXX; 49,XXXXY; trisomies (4p, 8, 8 mosaicism, 9, 9q, 10p, 10q, 11q, 13, 14, 15, 18, 21); and many others.
  • Cerebrooculofacioskeletal syndrome (OMIM 214150) is a common lethal condition characterized by contractures, brain anomalies, dysmyelination, microphthalmia, cataracts, renal anomalies, and other visceral anomalies.
  • Neu-Laxova syndrome (OMIM 256520) is a lethal autosomal recessive disorder characterized by dramatic contractures, intrauterine growth retardation, microcephaly, open eyes, tight ichthyotic skin, and severe CNS anomalies.
  • Restrictive dermopathy (OMIM 275210) is a lethal autosomal recessive disorder characterized by contractures and failure of fetal skin to grow normally. This restricts fetal movement, leading to secondary contractures.
  • Pena-Shokeir phenotype (OMIM 208150) is characterized by short, fixed limbs; pulmonary hypoplasia; intrauterine growth retardation; polyhydramnios; short umbilical cord; and unusual craniofacies. Phenotype is caused by fetal akinesia rather than a specific syndrome.21,22,18,23

Other associated syndromes and conditions

  • Adducted thumbs
  • Bowen-Conradi syndrome
  • C syndrome
  • Syndrome of cloudy cornea, diaphragmatic defects, and distal limb deformities
  • Syndrome of craniofacial and brain anomalies and intrauterine growth retardation
  • Syndrome of cryptorchidism, chest deformity, and contractures
  • Fetal alcohol syndrome
  • Faciocardiomelic syndrome
  • FG syndrome
  • Maternal multiple sclerosis
  • Maternal autoantibodies
  • Marden-Walker syndrome
  • Meckel syndrome
  • Meningomyelocele
  • Mietens syndrome
  • Miller-Dieker syndrome
  • Neurofibromatosis
  • Congenital myotonic dystrophy
  • Congenital myasthenia gravis
  • Popliteal pterygium with facial clefts
  • Pseudotrisomy 18
  • Spinal muscular atrophy
  • Sturge-Weber syndrome
  • Toriello-Bauserman syndrome
  • X-linked lethal arthrogryposis
  • Zellweger syndrome

Workup

Laboratory Studies

  • In general, laboratory tests are not extremely useful in arthrogryposis.
  • Obtain creatine phosphokinase (CPK) levels when the following conditions are present:
    • Generalized weakness
    • Doughy or decreased muscle mass
    • Progressive worsening
  • Viral cultures may reveal an infectious process.
  • Immunoglobulin M levels and specific viral titers (eg, coxsackievirus, enterovirus, Akabane virus) in the newborn may reveal intrauterine infection.
  • Maternal antibodies to neurotransmitters in the infant may indicate myasthenia gravis.
  • Cytogenetic study is indicated in the following situations:
    • Multiple organ or system involvement
    • Presence of CNS abnormalities, such as microcephaly, MR, lethargy, degenerative changes, or eye anomalies
  • Consider performing a fibroblast chromosome study if lymphocyte chromosome levels are normal and the patient has mental retardation (MR) without diagnosis.
  • Nuclear DNA mutation analysis is used to identify certain disorders, such as spinal muscular dystrophy.
  • Mitochondrial mutation analysis is used to identify certain disorders, such as mitochondrial myopathy.

Imaging Studies

  • Use photography to document the extent of deformities (range of motion and position of arthrogryposis) and to assess progress during treatment.
  • Use radiography to evaluate the following skeletal and joint abnormalities:
    • Bony abnormalities (eg, gracile bones, fusions, extra or missing carpals and tarsals)
    • Disproportionately short stature (ie, skeletal dysplasias)
    • Scoliosis
    • Ankylosis
    • Absence of patella
    • Humeroradial synostosis
  • Ultrasonography can help in evaluating the CNS and other viscera for anomalies. Ultrasonography also establishes potential muscle tissue.
  • CT scanning can be used to evaluate the CNS and the muscle mass.
  • MRI can be used to evaluate muscle mass obscured by contractures.
  • Prenatal ultrasonography can be used to discover the following:
    • Decreased fetal movement
    • Abnormal fetal lie
    • Polyhydramnios or oligohydramnios

Other Tests

  • Perform an ophthalmologic evaluation for opacity and retinal degeneration.

Procedures

  • Skin biopsy should be performed for culture of fibroblasts to be used for chromosome analysis.
  • Muscle biopsy
    • Muscle biopsy is probably the most important diagnostic procedure. It should be included in all autopsies and at time of surgery.
    • Distinguish myopathic from neuropathic conditions by obtaining muscle specimens from normal and affected areas.
    • Special histopathologic and electron micrographic studies are used to evaluate fatty and connective tissue replacement of muscle fibers and variations in fiber size, such as decreased fiber diameter. All are nonspecific signs of muscle atrophy.
  • Electromyography (EMG) of normal and affected areas is useful in differentiating neurogenic and myopathic causes.
  • Nerve conduction tests measure conduction velocities in motor and sensory nerves; these should be performed when a peripheral neuropathy is suspected.
  • An autopsy should be performed to discover more about the following:
    • CNS (ie, brain neuropathology)
    • Spinal cord (number and size of anterior horn cells, presence or absence of tracts at various levels)
    • Ganglia and peripheral nerves
    • Eye (ie, neuropathology)
    • Muscle tissue from different muscle groups (ie, electron microscopy and special stains)
    • Fibrous bands replacing muscle
    • Tendon attachments
    • Other visceral anomalies, malformations, deformations, and disruptions

Histologic Findings

Neurogenic types of arthrogryposis multiplex congenita

  • Muscle fiber type predominance or disproportion is the most common neurogenic abnormality in arthrogryposis (26%). These are nonspecific alterations. Dysgenesis of the motor nuclei of the spinal cord and brainstem involves the replacement of fasciculi of muscle fibers by small muscle fibers and adipose tissue. Examples include Pierre-Robin syndrome and Möbius syndrome.
  • Dysgenesis of the CNS is the second most common neurogenic abnormality in arthrogryposis (23%), with disorganization of neurons and a decrease in neurons of the cortex and motor nuclei of the brainstem and spinal cord. Clinical syndromes associated with this abnormality include trisomy 18, partial deletion of the long arm of chromosome 18 syndrome, and Zellweger syndrome.
  • Dysgenesis of the anterior horn, another common neurogenic abnormality in arthrogryposis, is the cause of Meckel-Gruber syndrome and anencephaly.
  • Spinal muscular atrophy (eg, Werdnig-Hoffmann disease) is another neurogenic abnormality in arthrogryposis.

Myopathic types of arthrogryposis multiplex congenita

  • Central core disease is a form of arthrogryposis in which the central portion of each muscle fiber contains a zone in which oxidative enzyme activity is absent.
  • Nemaline myopathy is indicated by abnormal threadlike structures in muscle cells. In type I nemaline myopathy, nemaline rods are present. In type II, the number of fibers with central nuclei is increased.
  • Congenital muscular dystrophy is indicated by muscle fibers that demonstrate a rounded configuration and conspicuous variation in diameter. Perimysial and endomysial connective tissues are markedly increased.
  • Mitochondrial cytopathy is indicated by numerous ragged-red fibers on muscle biopsy samples. It is associated with CNS abnormalities consistent with mitochondrial disease.
  • Myoneural junction abnormality (eg, congenital myasthenia gravis) is another myopathic type of arthrogryposis.

More on Arthrogryposis

Overview: Arthrogryposis
Differential Diagnoses & Workup: Arthrogryposis
Treatment & Medication: Arthrogryposis
Follow-up: Arthrogryposis
Multimedia: Arthrogryposis
References
[ CLOSE WINDOW ]

References

  1. Taricco LD, Aoki SS. Rehabilitation of an adult patient with arthrogryposis multiplex congenita treated with an external fixator. Am J Phys Med Rehabil. May 2009;88(5):431-4. [Medline].

  2. Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. Jul 2009;91 Suppl 4:40-6. [Medline].

  3. Hall JG. Genetic aspects of arthrogryposis. Clin Orthop. 1985;194:44-53. [Medline].

  4. Darin N, Kimber E, Kroksmark AK, Tulinius M. Multiple congenital contractures: birth prevalence, etiology, and outcome. J Pediatr. Jan 2002;140(1):61-7. [Medline].

  5. Laitinen O, Hirvensalo M. Arthrogryposis multiplex congenita. Ann Paediatr Fenn. 1966;12:133-138.

  6. Bevan WP, Hall JG, Bamshad M, Staheli LT, Jaffe KM, Song K. Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective. J Pediatr Orthop. Jul-Aug 2007;27(5):594-600. [Medline].

  7. Alves PV, Zhao L, Patel PK, Bolognese AM. Arthrogryposis: diagnosis and therapeutic planning for patients seeking orthodontic treatment or orthognathic surgery. J Craniofac Surg. Jul 2007;18(4):838-43. [Medline].

  8. Narkis G, Landau D, Manor E, Ofir R, Birk OS. Genetics of Arthrogryposis: Linkage Analysis Approach. Clin Orthop Relat Res. Dec 28 2006;[Medline].

  9. Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet. Sep 2007;81(3):530-9. [Medline].

  10. Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. Jul 1997;6(3):159-66. [Medline].

  11. Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the distal arthrogryposes. Am J Med Genet. Nov 11 1996;65(4):277-81. [Medline].

  12. Chen H. Multiple Pterygium Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Human Press; 2006:702-7.

  13. Chen H, Chang CH, Misra RP. Multiple pterygium syndrome. Am J Med Genet. 1980;7(2):91-102. [Medline].

  14. Escobar V, Bixler D, Gleiser S, Weaver DD, Gibbs T. Multiple pterygium syndrome. Am J Dis Child. Jun 1978;132(6):609-11. [Medline].

  15. Hall JG. The lethal multiple pterygium syndromes. Am J Med Genet. Apr 1984;17(4):803-7. [Medline].

  16. Hall JG, Reed SD, Greene G. The distal arthrogryposes: delineation of new entities--review and nosologic discussion. Am J Med Genet. Feb 1982;11(2):185-239. [Medline].

  17. Entezami M, Runkel S, Kunze J, Weitzel HK, Becker R. Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report. Fetal Diagn Ther. Jan-Feb 1998;13(1):35-8. [Medline].

  18. Chen H. Fetal Akinesia Sequence. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Human Press; 2006:398-402.

  19. Chen H, Immken L, Lachman R. Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome. Am J Med Genet. Apr 1984;17(4):809-26. [Medline].

  20. Chen H. Freeman-Sheldon Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Human Press; 2006:427-30.

  21. Chen H, Blumberg B, Immken L. The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. Am J Med Genet. Oct 1983;16(2):213-24. [Medline].

  22. Chen H, Blackburn WR, Wertelecki W. Fetal akinesia and multiple perinatal fractures. Am J Med Genet. Feb 13 1995;55(4):472-7. [Medline].

  23. Hall JG. Analysis of Pena Shokeir phenotype. Am J Med Genet. Sep 1986;25(1):99-117. [Medline].

  24. Moessinger AC. Fetal akinesia deformation sequence: an animal model. Pediatrics. Dec 1983;72(6):857-63. [Medline].

  25. Staheli LT, Hall JG, Jaffe K, et al. Arthrogryposis: A Text Atlas. New York: Cambridge University Press; 1998.

  26. [Guideline] Michaud LJ. Prescribing therapy services for children with motor disabilities. Pediatrics. Jun 2004;113(6):1836-8. [Medline].

  27. Atkins RM, Bell MJ, Sharrard WJ. Pectoralis major transfer for paralysis of elbow flexion in children. J Bone Joint Surg [Br]. Aug 1985;67(4):640-4. [Medline].

  28. Axt MW, Niethard FU, Doderlein L. Principles of treatment of the upper extremity in arthrogryposis multiplex congenita type I. J Pediatr Orthop B. Jul 1997;6(3):179-85. [Medline].

  29. Bamshad M, Bohnsack JF, Jorde LB, Carey JC. Distal arthrogryposis type 1: clinical analysis of a large kindred. Am J Med Genet. Nov 11 1996;65(4):282-5. [Medline].

  30. Banker BQ. Neuropathologic aspects of arthrogryposis multiplex congenita. Clin Orthop. Apr 1985;(194):30-43. [Medline].

  31. Baty BJ, Cubberley D, Morris C, Carey J. Prenatal diagnosis of distal arthrogryposis. Am J Med Genet. Mar 1988;29(3):501-10. [Medline].

  32. Bayne LG. Hand assessment and management of arthrogryposis multiplex congenita. Clin Orthop. Apr 1985;(194):68-73. [Medline].

  33. Beals RK. The distal arthrogryposes: a new classification of peripheral contractures. Clin Orthop Relat Res. Jun 2005;203-10. [Medline].

  34. Bennett JB, Hansen PE, Granberry WM. Surgical management of arthrogryposis in the upper extremity. J Pediatr Orthop. May-Jun 1985;5(3):281-6. [Medline].

  35. Bianchi DW, Van Marter LJ. An approach to ventilator-dependent neonates with arthrogryposis. Pediatrics. 1994;94:682-686. [Medline].

  36. Bui TH, Lindholm H, Demir N, Thomassen P. Prenatal diagnosis of distal arthrogryposis type I by ultrasonography. Prenat Diagn. Dec 1992;12(12):1047-53. [Medline].

  37. Carlson WO, Speck GJ, Vicari V. Arthrogryposis multiplex congenita. A long-term follow-up study. Clin Orthop. Apr 1985;(194):115-23. [Medline].

  38. Chen H. Arthrogryposis Multiplex Congenita. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Humana Press; 2006:74-83.

  39. Chen H. Lethal Multiple Pterygium Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Totowa, New Jersey: Human Press; 2006:604-12.

  40. Chen H, Blackburn WR, Wertelecki W. Fetal akinesia and multiple perinatal fractures. Am J Med Genet. Feb 13 1995;55(4):472-7. [Medline].

  41. Chen H, Blumberg B, Immken L, Lachman R, Rightmire D, Fowler M. The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. Am J Med Genet. Oct 1983;16(2):213-24. [Medline].

  42. Dudkiewicz I, Achiron R, Ganel A. Prenatal diagnosis of distalarthrogryposis type 1. Skeletal Radiol. 1999;28:233–235.

  43. Gericke GS, Hall JG, Nelson MM, Beighton PH. Diagnostic considerations in arthrogryposis syndromes in South Africa. Clin Genet. Feb 1984;25(2):155-62. [Medline].

  44. Gordon N. Arthrogryposis multiplex congenita. Brain Dev. Oct 1998;20(7):507-511. [Medline].

  45. Guidera KJ, Drennan JC. Foot and ankle deformities in arthrogryposis multiplex congenita. Clin Orthop. Apr 1985;(194):93-8. [Medline].

  46. Hahn G. Arthrogryposis. Pediatric review and habilitative aspects. Clin Orthop. Apr 1985;(194):104-14. [Medline].

  47. Hall JG. An approach to congenital contractures (arthrogryposis). Pediatr Ann. Jul 1981;DA - 19811025(7):15-26. [Medline].

  48. Hall JG. An approach to research on congenital contractures. Birth Defects Orig Artic Ser. 1984;20(6):8-30. [Medline].

  49. Hall JG. Arthrogryposes (multiple congenital contractures). In: Principles and Practice of Medical Genetics. Vol 2. 1990:989-1035.

  50. Hall JG. Re: distal arthrogryposis in two sisters born to different fathers [Hwu etal. 2004. Am J Med Genet 125A:100-101.]. Am J Med Genet A. Aug 1 2005;136(4):415. [Medline].

  51. Hall JG. The lethal multiple pterygium syndromes. Am J Med Genet. Apr 1984;17(4):803-7. [Medline].

  52. Hall JG, Reed SD, Driscoll EP. Part I. Amyoplasia: a common, sporadic condition with congenital contractures. Am J Med Genet. Aug 1983;15(4):571-90. [Medline].

  53. Hall JG, Reed SD, McGillivray BC. Part II. Amyoplasia: twinning in amyoplasia--a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins. Am J Med Genet. Aug 1983;15(4):591-9. [Medline].

  54. Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM. Limb pterygium syndromes: a review and report of eleven patients. Am J Med Genet. Aug 1982;12(4):377-409. [Medline].

  55. Hall JG, Reed SD, Scott CI. Three distinct types of X-linked arthrogryposis seen in 6 families. Clin Genet. Feb 1982;21(2):81-97. [Medline].

  56. Huurman WW, Jacobsen ST. The hip in arthrogryposis multiplex congenita. Clin Orthop. Apr 1985;(194):81-6. [Medline].

  57. Hwu WL, Chien YH, Hsu CC. Distal arthrogryposis in two sisters born to different fathers. Am J Med Genet A. Feb 15 2004;125(1):100-1. [Medline].

  58. Jiang M, Bian C, Li X, Man X, Ge W, Han W. Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B. Prenat Diagn. May 2007;27(5):468-70. [Medline].

  59. Jiang M, Zhao X, Han W, Bian C, Li X, Wang G. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Hum Genet. Sep 2006;120(2):238-42. [Medline].

  60. Kroksmark AK, Kimber E, Jerre R, Beckung E, Tulinius M. Muscle involvement and motor function in amyoplasia. Am J Med Genet Part A. Aug 15 2006;140(16):1757-67. [Medline].

  61. Letts M, Davidson D. The role of bilateral talectomy in the management of bilateral rigid clubfeet. Am J Orthop. Feb 1999;28(2):106-10. [Medline].

  62. Letts M, Davidson D. The role of bilateral talectomy in the management of bilateral rigid clubfeet. Am J Orthop. Feb 1999;28(2):106-10. [Medline].

  63. McGillivray K, Watson AJ. Congenital arthrogryposis in pregnancy. J Obstet Gynaecol. Mar 2002;22(2):218-9. [Medline].

  64. Mennen U. Arthrogryposis multiplex congenita: functional classification and the AMC disc-o-gram. J Hand Surg [Br]. Aug 2004;29(4):363-7. [Medline].

  65. Mennen U, van Heest A, Ezaki MB. Arthrogryposis multiplex congenita. J Hand Surg [Br]. Oct 2005;30(5):468-74. [Medline].

  66. Mennen U, van Heest A, Ezaki MB, Tonkin M, Gericke G. Arthrogryposis multiplex congenita. J Hand Surg [Br]. Oct 2005;30(5):468-74. [Medline].

  67. Moerman P, Fryns JP. The fetal akinesia deformation sequence. A fetopathological approach. Genet Couns. 1990;1(1):25-33. [Medline].

  68. Murray C, Fixsen JA. Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita). J Pediatr Orthop B. Jul 1997;6(3):186-91. [Medline].

  69. Palmer PM, MacEwen GD, Bowen JR, Mathews PA. Passive motion therapy for infants with arthrogryposis. Clin Orthop Relat Res. Apr 1985;(194):54-9. [Medline].

  70. Porter HJ. Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). Pediatr Pathol Lab Med. Jul-Aug 1995;15(4):617-37. [Medline].

  71. Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most common type of arthrogryposis: the potential for good outcome. Pediatrics. Feb 1996;97(2):225-31. [Medline].

  72. Shrimpton AE, Hoo JJ. A TNNI2 mutation in a family with distal arthrogryposis type 2B. Eur J Med Genet. Mar-Apr 2006;49(2):201-6. [Medline].

  73. Sodergard J, Hakamies-Blomqvist L, Sainio K. Arthrogryposis multiplex congenita: perinatal and electromyographic findings, disability, and psychosocial outcome. J Pediatr Orthop B. Jul 1997;6(3):167-71. [Medline].

  74. St Clair HS, Zimbler S. A plan of management and treatment results in the arthrogrypotic hip. Clin Orthop Relat Res. Apr 1985;(194):74-80. [Medline].

  75. Staheli LT, Chew DE, Elliott JS. Management of hip dislocations in children with arthrogryposis. J Pediatr Orthop. Nov-Dec 1987;7(6):681-5. [Medline].

  76. Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. Mar 2003;72(3):681-90. [Medline].

  77. Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet. Jul 2003;73(1):212-4. [Medline].

  78. Thomas B, Schopler S, Wood W, Oppenheim WL. The knee in arthrogryposis. Clin Orthop Relat Res. Apr 1985;(194):87-92. [Medline].

  79. Thompson GH, Bilenker RM. Comprehensive management of arthrogryposis multiplex congenita. Clin Orthop. Apr 1985;(194):6-14. [Medline].

  80. Williams PF. Management of upper limb problems in arthrogryposis. Clin Orthop Relat Res. Apr 1985;(194):60-7. [Medline].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

arthrogryposis multiplex congenita, AMC, multiple congenital contractures, multiple congenital joint contractures, fetal akinesia, decreased fetal movements, development of extra connective tissue, fixation of the joint, joint fixation, scoliosis, limb dysfunction, joint deformity, limb malformations, amyoplasia, distal arthrogryposes, Gordon syndrome, Pierre-Robin syndrome, Möbius syndrome, trisomy 18, Zellweger syndrome, Meckel-Gruber syndrome, anencephaly, Werdnig-Hoffmann disease, central core disease, nemaline myopathy, myoneural junction abnormality, congenital myasthenia gravis, diastrophic dysplasia, X-linked arthrogryposis, hyperextensibility, dislocated joints, myotonic dystrophy, myasthenia gravis, multiple sclerosis, rubella, rubeola, coxsackievirus, enterovirus, Akabane, maternal hyperthermia, oligohydramnios, chronic amniotic fluid leakage, lethal multiple pterygium syndrome, treatment, diagnosis

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Human Genetics, and Teratology Society
Disclosure: Nothing to disclose.

Medical Editor

James Bowman, MD, Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago
James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Hagop Youssoufian, MD, MSc, Vice President of Clinical Research, ImClone Systems Incorporated
Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.