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Tarsal-carpal coalition syndrome: importance of early diagnosis

Gloria Tze Yan Lau1, Gayatri Athalye-Jape1, Natasha Amery1

  • 1Neonatology, King Edward Memorial Hospital, Subiaco, Western Australia, Australia.

BMJ Case Reports
|June 9, 2019
PubMed

Insights

Tarsal-carpal coalition syndrome, a rare inherited condition causing bone fusions in limbs, was diagnosed in a mother and newborn. The study highlights its progressive nature and diagnostic challenges.

Area of Science:

  • Genetics
  • Orthopedics
  • Developmental Biology

Background:

  • Tarsal-carpal coalition syndrome is a rare, progressive condition characterized by the fusion of bones in the wrist, ankle, and digits.
  • Inherited forms of this syndrome are infrequently documented, presenting diagnostic challenges, particularly in early life.

Observation:

  • A case study details a mother and her newborn diagnosed with tarsal-carpal coalition syndrome.
  • The newborn exhibited reduced range of motion in digits, elbows, and ankles, with diagnosis confirmed postnatally.
  • The mother presented with severe bilateral elbow flexion deformities, digital synostoses, and extensive tarsal and carpal bone coalition.

Findings:

  • The condition is inherited and can manifest progressively, impacting limb function and quality of life.
  • Antenatal scanning can suggest the condition, but definitive diagnosis often occurs after birth.
  • Surgical interventions like osteotomies are necessary to manage functional limitations and improve quality of life.

Implications:

  • This case underscores the importance of recognizing inherited tarsal-carpal coalition syndrome for timely diagnosis and management.
  • Understanding the progressive nature of the syndrome is crucial for long-term patient care and therapeutic strategies.
  • Further research into the genetic basis and developmental mechanisms of tarsal-carpal coalition syndrome is warranted.

Keywords:
calcium and bonecongenital disordersgenetics

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