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Ulnar hemimelia: a report of four cases
Meltem Özdemir1,2, Aynur Turan3, Rasime Pelin Kavak3
1Department of Radiology, University of Health Sciences, Dışkapı Yıldırım Beyazıt Training and Research Hospital, Ankara, Turkey. meltemkaan99@gmail.com.
Skeletal Radiology
|February 4, 2019
Summary
Ulnar hemimelia, a rare birth defect involving the absence of the ulna, presents with varied upper limb abnormalities. This study details four cases, highlighting the spectrum of this congenital skeletal condition.
Area of Science:
- Orthopedics
- Medical Genetics
- Developmental Biology
Background:
- Ulnar hemimelia is a rare congenital skeletal anomaly characterized by partial or complete absence of the ulna.
- It occurs in approximately 1 in 150,000 live births, often associated with forearm shortening and radial bowing.
- Associated anomalies can include humeroradial synostosis, radial head dislocation, carpal coalition, and digital abnormalities.
Observation:
- This report presents four pediatric cases of ulnar hemimelia with diverse clinical presentations.
- One patient exhibited isolated ulnar hemimelia.
- The remaining three patients presented with additional, varied upper limb anomalies.
Findings:
- Ulnar hemimelia severity ranges from isolated deficiency to complex upper limb malformations.
- Patients may be asymptomatic with mild ulnar deficiency.
- Severe cases can lead to significant functional disability due to associated anomalies.
Implications:
- Understanding the spectrum of ulnar hemimelia is crucial for accurate diagnosis and prognosis.
- Early identification of associated anomalies aids in planning comprehensive management strategies.
- Further research into the genetic and developmental factors underlying ulnar hemimelia is warranted.
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