Combined Congenital Radial and Ulnar Longitudinal Deficiencies: Report of 2 Cases

Combined Congenital Radial and Ulnar Longitudinal Deficiencies: A Case Report

“…The authors observed that the critical period to develop ULD was earlier than that required to produce RLD. The authors did not observe concurrent RLD and ULD [1,8].…”

“…Combination of RLD and ULD on contra- [9] lateral sides in the same patient is an exceedingly rare occurrence. I was able to find only a report of two cases describing this occurrence [1]. Oberg et al have reported this combination in a fetus and a newborn.…”

“…The AER gives positive feedback to the ZPA by FGF signals. ULD is thought to occur from disruption of ZPA formation or Shh dysfunction, while RLD is associated with disruption of AER-related cell proliferation [1].…”

“…Combination of RLD and ULD in contra-lateral sides in the same patient is an exceedingly rare occurrence. [1] This case report describes a patient with right RLD and left ULD. The left ULD was extended proximally to become a phocomelic left upper limb.…”

“…The incidence of radial longitudinal deficiencies (RLD) is estimated 1 in 9,000 to 1 in 55,000 [1,2]. The incidence of ulnar-sided defect or ulnar longitudinal deficiencies (ULD) is estimated 1 in 100,000 [1,2]. Phocomelia is a very rare anomaly.…”