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Peer-reviewedCC BY-NCJournal of orthopaedic case reports

Congenital Unilateral Terminal Transverse Deficiency with a Rudimentary Distal Osseous Anlage in a Treatment-Naïve Adult: A Case Report.

  1. 1Department of Orthopaedics, Sohar Hospital, Sohar, Oman.

Abstract

Congenital terminal transverse limb deficiencies are rare, with complete terminal arrest representing an uncommon form of congenital limb deficiency. The existing literature predominantly focuses on pediatric management, including surgical reconstruction and prosthetic rehabilitation, while the natural functional outcomes in untreated adults remain poorly documented. We report a case of congenital unilateral terminal transverse deficiency with a rudimentary distal osseous anlage in a treatment-naïve adult, highlighting the long-term functional adaptation in the absence of surgical or prosthetic intervention. A 44-year-old woman presented with a congenital unilateral left terminal transverse deficiency characterized by rudimentary soft-tissue nubbins and a distal osseous anlage. She had received no previous surgical reconstruction, prosthetic fitting, or formal rehabilitation. Clinical evaluation included goniometric assessment of range of motion, radiographic analysis, and the quick disabilities of the arm, shoulder, and hand questionnaire to assess long-term spontaneous functional and biomechanical adaptation. Despite the congenital deficiency and absence of prior intervention, she demonstrated substantial functional adaptation of the affected limb, enabling effective performance of activities of daily living. This case demonstrates the considerable capacity for spontaneous functional and biomechanical adaptation in an adult with congenital terminal transverse limb deficiency who remained treatment-naïve into adulthood. Despite the absence of surgical reconstruction, prosthetic use, or formal rehabilitation, the patient achieved substantial functional independence in activities of daily living. These findings highlight the importance of individualized assessment of functional requirements and patient expectations when considering reconstructive or prosthetic interventions in congenital limb deficiencies.

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BibTeX
@article{shawer2026congenital,
  title = {{Congenital Unilateral Terminal Transverse Deficiency with a Rudimentary Distal Osseous Anlage in a Treatment-Naïve Adult: A Case Report.}},
  author = {Mohamed Ibrahim Aly Shawer and Shakil Ahmad and Mohammed Nasser Said Al Kindi},
  journal = {Journal of orthopaedic case reports},
  year = {2026},
  month = nov,
  doi = {10.13107/jocr.2026.v16.i11.8446},
  url = {https://europepmc.org/article/MED/42997092},
  note = {CC BY-NC},
}
RIS
TY  - JOUR
TI  - Congenital Unilateral Terminal Transverse Deficiency with a Rudimentary Distal Osseous Anlage in a Treatment-Naïve Adult: A Case Report.
AU  - Mohamed Ibrahim Aly Shawer
AU  - Shakil Ahmad
AU  - Mohammed Nasser Said Al Kindi
PY  - 2026
DA  - 2026/11/01
JO  - Journal of orthopaedic case reports
DO  - 10.13107/jocr.2026.v16.i11.8446
UR  - https://europepmc.org/article/MED/42997092
AB  - Congenital terminal transverse limb deficiencies are rare, with complete terminal arrest representing an uncommon form of congenital limb deficiency. The existing literature predominantly focuses on pediatric management, including surgical reconstruction and prosthetic rehabilitation, while the natural functional outcomes in untreated adults remain poorly documented. We report a case of congenital unilateral terminal transverse deficiency with a rudimentary distal osseous anlage in a treatment-naïve adult, highlighting the long-term functional adaptation in the absence of surgical or prosthetic intervention. A 44-year-old woman presented with a congenital unilateral left terminal transverse deficiency characterized by rudimentary soft-tissue nubbins and a distal osseous anlage. She had received no previous surgical reconstruction, prosthetic fitting, or formal rehabilitation. Clinical evaluation included goniometric assessment of range of motion, radiographic analysis, and the quick disabilities of the arm, shoulder, and hand questionnaire to assess long-term spontaneous functional and biomechanical adaptation. Despite the congenital deficiency and absence of prior intervention, she demonstrated substantial functional adaptation of the affected limb, enabling effective performance of activities of daily living. This case demonstrates the considerable capacity for spontaneous functional and biomechanical adaptation in an adult with congenital terminal transverse limb deficiency who remained treatment-naïve into adulthood. Despite the absence of surgical reconstruction, prosthetic use, or formal rehabilitation, the patient achieved substantial functional independence in activities of daily living. These findings highlight the importance of individualized assessment of functional requirements and patient expectations when considering reconstructive or prosthetic interventions in congenital limb deficiencies.
SN  - 2250-0685
SN  - 2321-3817
ER  -