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Area of Science:

  • Pediatric Orthopedics
  • Clinical Genetics
  • Developmental Biology

Background:

  • Ulnar longitudinal deficiency (ULD) is a rare congenital anomaly affecting the ulna and associated structures.
  • Postaxial polydactyly (PAPD) involves the presence of extra digits on the ulnar side of the hand or foot.
  • The simultaneous occurrence of ULD and PAPD is exceptionally rare and previously undescribed.

Purpose of the Study:

  • To report a unique case of bilateral ULD with concurrent PAPD in an infant.
  • To discuss potential genetic mechanisms, including the Sonic hedgehog-Patched-Gli pathway, involved in this dual anomaly.
  • To broaden the understanding of ULD phenotypes and congenital upper limb differences.

Main Methods:

  • Case presentation of a 2-month-old male infant.
  • Clinical examination and diagnostic imaging (details not provided in abstract).
  • Literature review on ULD, PAPD, and associated genetic pathways.

Main Results:

  • A male infant presented with bilateral ulnar longitudinal deficiency and postaxial polydactyly.
  • This specific combination of anomalies has not been previously documented in medical literature.
  • The case highlights the complexity of congenital upper limb malformations.

Conclusions:

  • The co-occurrence of ULD and PAPD represents a novel phenotype within congenital musculoskeletal anomalies.
  • Comprehensive evaluation is crucial for patients with ULD, considering potential associations with other limb differences and cardiac anomalies.
  • Further research into the genetic underpinnings of congenital upper limb differences is warranted.