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Related Experiment Video

Updated: May 30, 2026

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis

Published on: August 26, 2020

Ulnar dimelia variant: a case report.

Javed Jameel¹, Abdul Qayyum Khan, Sohail Ahmad

¹Department of Orthopaedic Surgery, J.N. Medical College, A. M. U, Aligarh 202002, Uttar Pradesh, India. drjavedjameel@rediffmail.com

Journal of Orthopaedics and Traumatology : Official Journal of the Italian Society of Orthopaedics and Traumatology

|July 20, 2011

Summary

This study details a rare congenital condition, ulnar dimelia (mirror hand), in an infant girl. The case presents unique symmetrical fingers with non-symmetrical duplicated ulnae and absent radius.

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Last Updated: May 30, 2026

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis

Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis

Published on: August 26, 2020

Area of Science:

Medical Genetics
Developmental Biology
Orthopedic Surgery

Background:

Ulnar dimelia, or mirror hand, is a rare congenital upper limb malformation characterized by the absence of the radius and duplication of the ulna.
This condition often involves mirror-image duplication of the digits and other forearm structures.

Observation:

A 2-month-old female infant presented with restricted elbow flexion and forearm rotation.
Physical examination revealed no facial or internal organ abnormalities.
Radiographic imaging demonstrated seven triphalangeal digits, double ulnae positioned sequentially, and a complete absence of the radius.

Findings:

This case represents a unique presentation of ulnar dimelia with symmetrical triphalangeal digits.
A notable finding is the non-symmetrical duplication of the ulnae, which is uncommon in reported cases.
The absence of the radius is consistent with the typical diagnostic criteria for ulnar dimelia.

Implications:

This case expands the understanding of the phenotypic variability within ulnar dimelia.
Further research into the genetic and developmental mechanisms underlying asymmetrical ulna duplication is warranted.
Such detailed case reports are crucial for improving diagnostic accuracy and guiding future surgical and therapeutic interventions for limb malformations.