5 Key Takeaways

• 1

  A novel homozygous nonsense variant in the LIFR gene was identified in a 5-month-old with Stüve-Wiedemann syndrome.

• 2

  Stüve-Wiedemann syndrome is characterized by bowed long bones, joint contractures, and severe dysautonomia.

• 3

  The infant exhibited prenatal and postnatal symptoms, including intrauterine growth restriction and feeding difficulties.

• 4

  Dysautonomia significantly contributes to early mortality, with a global mortality rate of 46% in affected individuals.

• 5

  Molecular confirmation aids in differentiating Stüve-Wiedemann syndrome from other skeletal dysplasias and related conditions.