Arthrogryposis Follow-up

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 11, 2011
 

Further Inpatient Care

  • Admit the patient for surgical intervention.
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Further Outpatient Care

  • Carefully monitor the patient, watching for postoperative complications.
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Transfer

  • Patients may need to be transferred for further diagnostic evaluation and surgical intervention.
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Deterrence/Prevention

  • Identifying the causes of arthrogryposis remains vital for determining the management, prognosis, predicting recurrence risks and counselling couples. Early diagnosis allows for institution of appropriate investigations and offering patients informed choice including the option of termination if indicated. Multidisciplinary work by obstetricians, geneticists, neonatologists, and pediatric pathologists optimizes the chances of achieving a diagnosis and providing parents with accurate and appropriate information to enable them make informed choices with regards to their pregnancy.[26]
  • Recurrence risk depends on whether the contractures are extrinsically or intrinsically derived. Extrinsically derived contractures have a low recurrence risk, whereas the recurrence risk for intrinsically derived contractures depends on etiology. Arthrogryposis may be inherited in the following ways with different recurrence risks, and the patient and parents should know this information:
    • Autosomal dominant: Recurrence risk to offspring is 50% (eg, distal arthrogryposis).
    • Autosomal recessive: Recurrence risk to offspring is 25%, and both parents are obligatory carriers (eg, lethal multiple pterygium syndrome).
    • X-linked recessive: All daughters of affected males are carriers. Their sons have a 50% chance of being affected, and their daughters have a 50% chance of being carriers (eg, severe lethal, moderately severe, and resolving types of X-linked arthrogryposis).
    • Multifactorial: Combined effects of multiple genes and environmental factors cause multifactorial traits. For most multifactorial diseases, empirical risks (risks based on direct observation of data) have been derived. For example, empirical recurrence risks of neural tube defects for siblings of an affected individual range from 2-5% in most populations.
    • Mitochondrial: A small but significant number of diseases are caused by mitochondrial mutations. Because of the unique properties of mitochondria, these diseases display characteristic modes of inheritance (ie, inherited exclusively through the maternal line) and wide phenotypic variability. Only females can transmit the disease mutation to their offspring (eg, distal type IIB arthrogryposis).
  • Sporadic: For families in which a specific diagnosis cannot be made, the empiric recurrence risk to unaffected parents of an affected child, or to the affected individual with arthrogryposis, ranges from 3-5%.
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Complications

  • The most common perioperative issues include difficulties with airway management, problematic intravenous access, and intraoperative hyperthermia.
  • Anesthesia can be difficult because vascular access is often restricted.
  • Intubation may pose problems for patients with a small underdeveloped jaw, limited movement of the temporomandibular joint, or a narrow airway.
  • Osseous hypoplasia, which is associated with decreased mechanical use in developing bone, is prone to fracture at multiple sites. Multiple perinatal fractures have been observed in osteopenic bones.
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Prognosis

  • In neonates, ventilator dependence is associated with a poor prognosis. Prenatal factors that potentially predict respiratory insufficiency include decreased fetal movements, polyhydramnios, micrognathia, and thin ribs. Developmental milestones often are delayed because of limitations of movement.
  • Some patients develop skeletal changes secondary to the original deformities; these may include scoliosis and deformed carpal and tarsal bones, and they worsen the patient's overall condition. Limbs may undergrow after long-standing contractures. External genitalia are often abnormal (eg, cryptorchidism, absent labia majora) because of abnormal hip position.
  • Prognosis depends on whether defects are intrinsically or extrinsically derived. Extrinsically derived contractures carry an excellent prognosis, whereas intrinsically derived contractures carry a prognosis that depends on the etiology.
  • Prognosis also depends on the condition's natural history and the patient's response to therapy.
    • Natural history
      • Developmental landmarks (attainment of motor, social, and language milestones)
      • Growth of affected limbs
      • Progression of contractures
      • CNS damage (lethal, stable, improving)
      • Asymmetry of contractures (improving, worsening)
      • Changes in trunk or limbs
      • Intellectual ability
      • Socialization
    • Response to therapies
      • Spontaneous improvement
      • Response to physical therapy
      • Response to casting
      • Types of surgery at appropriate time
      • Development of motor strength proportionate to limb size[27]
  • Despite severe handicaps, the prognosis for most children with normal intelligence may be good enough to allow for independent, productive lives. However, many remain partially dependent on others, such as parents, relatives, and government subsidy. Dependency is related more closely to personality, education, and overall coping skills than to the degree of physical deformity.
  • Properly sequenced corrective surgical procedures are required to maximize musculoskeletal function.
  • In addition to appropriate surgical correction, good family support, a proper educational environment, and promotion of independence at an early age are required to achieve maximal function.
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Patient Education

  • The birth of a child with arthrogryposis may be a catastrophic event for parents and family. They may experience anger, feelings of guilt, denial, disappointment, repulsion, or depression. Family members may have difficulty understanding or accepting the diagnosis, and they may have a tendency to look for magical answers. Family members may also be concerned about additional unrecognized malformations, risk of mental retardation (MR), and recurrence risk.
  • The following up-to-date resources should be made available to families:

AVENUES

(A National Support Group for Arthrogryposis Multiplex Congenita)

PO Box 5192 Sonora, CA 95370

Phone: 209-928-3688

email: info@avenuesforamc.com

National Organization for Rare Disorders, Inc. (NORD)

55 Kenosia Avenue

PO Box 1968

Danbury, CT 06813-1968

Phone: 800-999-6673

Fax: 203-798-2291

email: orphan@rarediseases.org

NIH/National Arthritis and Musculoskeletal and Skin Disease Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

Phone: 301-495-4484

Shriner's Hospital for Children

Dr. Richard McCall

3100 Samford

Shreveport, LA 71103

Phone: 318-222-5704

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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 College of Medical Genetics, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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.

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 and Genetics, Director RSA, 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.

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An infant with amyoplasia. Note internally rotated and adducted shoulders, fixed extended elbows, pronated forearms, flexed wrists and fingers, and severe talipes deformity.
An infant with distal arthrogryposis type I. Note medially overlapping fingers, tightly clenched fists, and positional foot contractures.
The hands of a patient with contractural arachnodactyly (Beals syndrome). Note the long, thin fingers with interphalangeal joint contractures.
A girl with an autosomal recessive type of multiple pterygium syndrome. Note the multiple joint contractures at the knees with marked pterygia, including intercrural webbing, affecting her stance and ambulation.
A mother and child both affected with trismus pseudocamptodactyly. Note the small mouth (with limited ability to open) and flexion contractures of fingers on dorsiflexion.
Twins with a lethal type of autosomal recessive multiple pterygium syndrome. Note the multiple joint contractures with marked pterygia, cardiac and lung hypoplasia, and characteristic facies.
An infant with a lethal type of multiple pterygium syndrome. Note multiple joint contractures with marked pterygia and a cystic hygroma on the posterior aspect of the head and the neck.
The photograph on the left shows an infant with fetal akinesia. Note depressed nasal bridge, micrognathia, flexion contractures of elbows, bilateral clubhands, and arthrogryposis of fingers. The radiograph on the right shows an infant with fetal akinesia. Note gracile ribs; thin, long bones with multiple fractures at mid diaphyses of the humeri, distal diaphyses of the femora, and proximal diaphyses of both tibiae and left fibula; and clubhands.
An infant with Pena-Shokeir syndrome. Note characteristic facies (ocular hypertelorism; short nose with depressed bridge; small and markedly recessed jaw; low-set, malformed ears), short neck, mild contracture at the hip, moderate contractures at elbows and knees, severe ankle contractures, and camptodactyly with ulnar deviation of the hands.
 
 
 
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