ARTHROGRYPOSIS MULTIPLEX CONGENITA – Case By Dr. Nitin Jadhav

History: Patient came for prenatal second trimester ultrasound scan.

Ultrasound Findings and Description:

●     Fetal limbs appear fixed in abnormal positions, such as flexed knees, extended elbows and clubfoot deformities.

●     Minimal or absent movement of the fetal limbs observed.

●     Limited range of motion in the joints, which may appear rigid or hyperextended.

●     The muscles appear underdeveloped, leading to thinning of limbs,muscle hypoplasia.

Other Findings to look for in such cases:

●     Abnormalities in other organ systems (e.g., central nervous system or spinal abnormalities) contributing to the limited movement.

●     Oligohydramnios (reduced amniotic fluid) associated with decreased fetal movement.

Diagnosis:  Arthrogryposis multiplex congenita.

Differential Diagnosis:

1. Fetal Akinesia Deformation Sequence: Severe lack of fetal movement leading to contractures, commonly associated with pulmonary hypoplasia and other systemic anomalies.

2. Neuromuscular Disorders (e.g., Spinal Muscular Atrophy): Reduced muscle tone leading to joint contractures, detectable through genetic testing.

3. Osteogenesis Imperfecta: Brittle bone disease with fractures and deformities, distinguishable by abnormal bone mineralization on ultrasound.

Discussion:

Arthrogryposis multiplex congenita is a complex condition with varying etiologies. Ultrasound plays a crucial role in the prenatal diagnosis, allowing early identification of limb abnormalities, reduced movement, and potential associated anomalies. Prognosis depends on the underlying cause, with some forms being more severe than others.

Conclusions:

Ultrasound findings of joint contractures, decreased movement, and muscle underdevelopment are key indicators of arthrogryposis multiplex congenita. Early detection enables further evaluation and planning for postnatal management, including potential surgical intervention or physical therapy.