CONGENITAL ABSENCE OF THE PATELLAE AND INFERIOR PUBIC RAMI WITH RENAL HYPOPLASIA: A RARE CASE REPORT

Küçüker M., Çekiç E., Akdoğan A. I., Turamanlar O.

CJMR (Clinical Journal of Medical Research), vol.8, no.1, pp.7-12, 2026 (Peer-Reviewed Journal)

Abstract

The occurrence of multiple skeletal anomalies in the same individual is rare and generally reflects disruptions in common developmental pathways. In this case report, we aim to describe the anatomical implications and embryological relationships of the concurrent bilateral absence of the patellae and inferior pubic rami accompanied by renal hypoplasia. A 41-year-old male patient was evaluated using pelvic, chest, knee, hand, and foot radiographs, as well as chest and abdominopelvic computed tomography (CT). The findings were compared with standard anatomy and assessed in terms of bone morphology, muscle insertion points, lower limb biomechanics, and visceral organ development. Physical examination findings were also recorded. In addition, embryological and genetic mechanisms implicated in the development of the pelvis, patella, and kidneys were reviewed in the literature. Pelvic and knee imaging revealed bilateral absence of the inferior pubic rami and patellae. Spurlike prominences were also observed in the tibial diaphyses. Thoracic imaging demonstrated anterior sternal protrusion with rotation. Abdominopelvic CT showed hypoplasia of the right kidney. Radiographs of the hands and feet revealed significant findings. Physical examination identified pes planus and pectus carinatum. Our findings represents a rare skeletal phenotype with a probable embryological basis. Recognition of such developmental patterns is crucial for establishing an accurate diagnosis, guiding surgical planning, and providing appropriate genetic counseling.