Bilateral ulnar hemimelia with monodactyly

Case contributed by Ravi Kumar Saman
Diagnosis certain

Presentation

The patient presented with bilateral monodactyly with no other associated complaints or congenital anomalies.

Patient Data

Age: 15 days
Gender: Female

Anteroposterior x-ray images of the right and left upper limbs show a complete absence of both ulna. Both sides have only one metacarpal bone and one digit. X-ray findings are suggestive of "bilateral complete ulnar hemimelia with mono-metacarpal and monodactyly". Bilateral flexion deformity of both elbows.

Clinical photos of the same patient show bilateral monodactyly and flexion deformity of both elbows.

Case Discussion

Hemimelia is a rare congenital birth defect of the limb in which partial or complete agenesis of long bones is noted. Ulnar hemimelia is congenital partial or complete agenesis of the ulna, associated with syndactyly, clinodactyly, and oligodactyly, or it may be associated with syndromes like Poland syndrome and Klippel-Feil syndrome.

In this case, bilateral ulnar hemimelia with mono-metacarpal and monodactyly were noted, which resembles a "baby bird wing-like" upper limb deformity. Also, there is no association with other congenital anomalies noted, and on follow-up, the baby was absolutely fine.

We obtained consent from the patient for the clinical photos and were informed that they could be published. We did not disclose the patient's information.

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