Arthrogryposis: A Review and Approach to Prenatal Diagnosis

Abstract

After completing this CME activity, physicians should be better able to define arthrogryposis and identify a classification framework to approach prenatal diagnosis, develop a differential diagnosis for a fetus who demonstrates arthrogryposis, formulate an action plan for prenatal diagnosis and assess the importance of a multidisciplinary approach to counseling and care when a fetus is identified to have arthrogryposis.

Cardiac Magnetic Resonance Imaging of Left Ventricular Apical Hypoplasia in Two Complex Congenital Clinical Syndromes

“…Many myopathies are known for various grades of cardiac involvement; and primary amyoplasia, thus still considered idiopathic, has the peculiar histological finding of the replacement of skeletal muscle by fatty tissue. 13 The same finding is seen in LVAH, where fatty infiltration usually replaces the missing part of the apex. More interestingly, atrial septal defect and biventricular non-compaction were found in the second patient.…”

Obstetric outcomes in women who sustained a spinal cord injury during pregnancy

“…7 Reduced foetal movement and contractures (for example, talipes) seen on prenatal ultrasound are suggestive of AMC. 6 Profound hypotension at the time of the SCI was probably the major cause of CP in case 1, as talipes were noted on ultrasound at 13 weeks, however, the fever at the time of delivery may have been an additional insult. Foetal cerebral ischaemia associated with maternal traumatic injury during pregnancy 8 and maternal fever and infection at delivery have been reported to increase the risk of occurrence of CP and multiple risk factors compound the risk.…”

“…Foetal neurologic abnormality such as cerebral palsy (CP) is the aetiology in 80% of cases. 6 Multiple causes are associated with AMC, including intrauterine vascular compromise (for example, severe blood loss), maternal teratogenic exposure (hyperthermia, infection, medications, alcohol, cocaine), maternal illness (for example, multiple sclerosis), genetic disorder of the foetus (for example, skeletal dysplasia) or extrinsic factors (for example, oligohydramnios). 7 Reduced foetal movement and contractures (for example, talipes) seen on prenatal ultrasound are suggestive of AMC.…”

A pictorial guide for the second trimester ultrasound

“…It is essential to see flexion or extension of a limb at least once during the scanning process to reduce the chance of missing a case of arthrogryposis 10 . Similarly the opening of the hands to exclude clenched fingers is important to rule out several syndromes 11 …”