What is the role of imaging studies in the workup of arthrogryposis multiplex congenita (AMC)?

Updated: Jan 03, 2019
  • Author: Mithilesh K Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK); Chief Editor: Maria Descartes, MD  more...
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Answer

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.

A study by Dicke et al of the efficacy of obstetric ultrasonography in detecting fetal limb abnormalities indicated that the modality had an 81.3% sensitivity for the prenatal diagnosis of arthrogryposis. The investigators examined cases of arthrogryposis, polydactyly, limb reduction defects, and abnormal hand position, that underwent obstetric ultrasonographic scanning at their institution over a 20-year period. [27]

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 assessment of a fetus with arthrogryposis is as follows [28] :

  • Pregnancy history

  • Family history

  • Imaging studies of multiple contractures with ultrasound: For mechanisms extrinsic to the fetus, investigations include serial ultrasound assessment, parental examination, fetal MRI, and delivery planning. For mechanisms intrinsic to the fetus, investigations include karyotype and/or DNA testing, serial ultrasound assessment, parental examination, fetal MRI, referral to other specialties, and delivery planning. Other conditions may include primary CNS disease, primary muscular disease including amyoplasia, connective-tissue disorder, skeletal dysplasia, vascular disruption, and Pena-Shokeir phenotype.

First trimester prenatal ultrasound findings are as follows [29] :

  • Total fetal immobility: Suspect lethal arthrogryposis. [30]

  • Talipes and bilateral fixed flexion deformities of the hands, wrists, elbows, and knees: Suspect lethal arthrogryposis. [31]

  • Abnormal flexion of the hips and extension of the knees: Suspect Pena-Shokeir phenotype (lethal). [32]

  • Increased nuchal translucency: This is a useful marker, especially when there is a syndrome present, and is correlated with lethal arthrogryposis multiplex congenita.

  • Cystic hygroma associated with multiple contractures: Suspect lethal multiple pterygium syndrome when other characteristic findings such as ocular hypertelorism, hypoplastic lungs, cleft palate, and hydramnios are present. [33]

Second trimester prenatal ultrasound findings are as follows [29] :

  • Joint contracture of all the extremities with clinched hands, clubfeet, and, essentially absent fetal movements, often associated with polyhydramnios and pulmonary hypoplasia: Suspect lethal types of arthrogryposis.

  • Cystic hygroma associated with pleural effusion: This is a common early second trimester finding in both lethal and nonlethal types of arthrogryposis multiplex congenita.

  • Fetal hydrops: Possibly suspect lethal types of arthrogryposis.

  • Arthrogryposis and decreased fetal mobility associated with multiple congenital anomalies: Suspect a possible syndrome.

Third trimester prenatal ultrasound findings are as follows [29] :

  • Multiple joint contractures and other deformities such as talipes: This may not become apparent until the third trimester.

  • Decreased fetal movement, micrognathia, polyhydramnios, hypoechogenicity, and hypomineralization of the long bones [34] ; pleural effusions; ventriculomegaly; hydronephrosis; and collapsed stomach: These may be common sonographic findings in the third trimester.


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