Ulnar Longitudinal Deficiency: A Case Report

Abstract

Ulnar longitudinal deficiency (ULD) is a rare skeletal condition marked by the partial or complete failure of the formation of the ulna. This rare condition is often associated with fixed flexion deformity, radial head subluxation, complex carpal, metacarpal, and digital abnormalities. Most presentations are malepreponderant and right-sided. Different classifications have described ULD. Usually, the condition is not associated with systemic findings; however, detailed physical examination and radiologic evaluations are crucial for assessing and managing affected patients. We report a rare case of ULD in an 11-month-old female infant with congenital absence of the left ulna, four digits, and a postaxial hypoplastic finger.

Cartilage within lipomyelomeningocele and ulnar longitudinal deficiency syndrome as VACTERL association, alliance in SHH/GLI3, and Wnt pathway: illustrative case

“… 16 On the other hand, abnormalities in the Wnt7a pathway (located in the dorsal ectoderm) produce several clinically relevant conditions like ulnar ray deficiency, which explains the associated limb anomalies in VACTERL association, because Shh also plays a major role in limb formation. 17 , 18 Along with this, ASD, which is also part of the VACTERL association and one of the anomalies in our patient, is another congenital problem associated with disrupted Shh signaling. 19 …”