Arthyrogryposis multiplex congenita fetal ultrasound

Key Ultrasound Findings

• Limb Deformities & Contractures: Fixed, immobile limb positioning is the hallmark sign. Clubfoot (talipes equinovarus) is the most frequent presentation, occurring in up to 83% of cases. Clenched hands, hyperextended or crossed legs, and fixed elbow or knee flexion are also highly indicative.
• Fetal Akinesia: A persistent lack of general mobility, sluggishness, or absent joint manipulation during prolonged observation.
• Early Markers (First Trimester): Increased nuchal translucency thickeness, cystic hygroma, or early subcutaneous nuchal edema between weeks 11 and 14 can be early red flags.
• Amniotic Fluid Abnormalities: Polyhydramnios (excess amniotic fluid) often develops after 25 weeks because the fetus cannot swallow effectively due to muscle weakness. Less frequently, oligohydramnios may occur.
• Craniofacial Signs: Structural abnormalities like micrognathia (an abnormally small jaw) or a flattened facial profile.
• Secondary Skeletal Findings: Scoliosis, a narrow or small chest, thin ribs, or fractures caused by poor muscle pull and movement.