Case Report

Congenital Absence of the Patellae and Inferior Pubic Rami With Renal Hypoplasia: A Rare Case Report

Volume: 6 Number: 1 April 29, 2026
TR EN

Congenital Absence of the Patellae and Inferior Pubic Rami With Renal Hypoplasia: A Rare Case Report

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.

Keywords

Supporting Institution

None.

Ethical Statement

Ethical approval was not required for this case report. Written informed consent was obtained from the patient for participation and publication.

Thanks

None.

References

  1. Dreyer SD., Zhou G., Baldini A., et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 1998;19(1):47-50.doi:10.1038/ng0598-47.
  2. Kishio N., Iwama K., Nakanishi S., et al. A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins. Human Genome Variation. 2024;11(1):10.doi:10.1038/s41439-024-00266-z.
  3. Lindelöf H., Horemuzova E., Voss U., et al. Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up. Front Endocrinol (Lausanne). 2022;13:862908.doi:10.3389/fendo.2022.862908.
  4. Bongers EM., Duijf PH., van Beersum SE., et al. Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet. 2004;74(6):1239-48.doi:10.1086/421331.
  5. Michos O., Panman L., Vintersten K., et al. Gremlin-mediated BMP antagonism induces the epithelial-mesenchymal feedback signaling controlling metanephric kidney and limb organogenesis. Development. 2004;131(14):3401-10.doi:10.1242/dev.01251.
  6. Saber A. Isolated loss of inferior pubic ramus: a case report. J Med Case Rep. 2008;2:202.doi:10.1186/1752-1947-2-202.
  7. Bongers EM., Van Bokhoven H., Van Thienen MN., et al. The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. J Med Genet. 2001;38(3):209-14.doi:10.1136/jmg.38.3.209.

Details

Primary Language

English

Subjects

Anatomy

Journal Section

Case Report

Publication Date

April 29, 2026

Submission Date

November 25, 2025

Acceptance Date

February 11, 2026

Published in Issue

Year 2026 Volume: 6 Number: 1

APA
Küçüker, M., Çekiç, E., Akdoğan, A. I., & Turamanlar, O. (2026). Congenital Absence of the Patellae and Inferior Pubic Rami With Renal Hypoplasia: A Rare Case Report. Güncel Tıbbi Araştırmaları Dergisi, 6(1), 7-12. https://doi.org/10.52818/cjmr.1829294
AMA
1.Küçüker M, Çekiç E, Akdoğan AI, Turamanlar O. Congenital Absence of the Patellae and Inferior Pubic Rami With Renal Hypoplasia: A Rare Case Report. CJMR. 2026;6(1):7-12. doi:10.52818/cjmr.1829294
Chicago
Küçüker, Merve, Erkan Çekiç, Aslı Irmak Akdoğan, and Ozan Turamanlar. 2026. “Congenital Absence of the Patellae and Inferior Pubic Rami With Renal Hypoplasia: A Rare Case Report”. Güncel Tıbbi Araştırmaları Dergisi 6 (1): 7-12. https://doi.org/10.52818/cjmr.1829294.
EndNote
Küçüker M, Çekiç E, Akdoğan AI, Turamanlar O (April 1, 2026) Congenital Absence of the Patellae and Inferior Pubic Rami With Renal Hypoplasia: A Rare Case Report. Güncel Tıbbi Araştırmaları Dergisi 6 1 7–12.
IEEE
[1]M. Küçüker, E. Çekiç, A. I. Akdoğan, and O. Turamanlar, “Congenital Absence of the Patellae and Inferior Pubic Rami With Renal Hypoplasia: A Rare Case Report”, CJMR, vol. 6, no. 1, pp. 7–12, Apr. 2026, doi: 10.52818/cjmr.1829294.
ISNAD
Küçüker, Merve - Çekiç, Erkan - Akdoğan, Aslı Irmak - Turamanlar, Ozan. “Congenital Absence of the Patellae and Inferior Pubic Rami With Renal Hypoplasia: A Rare Case Report”. Güncel Tıbbi Araştırmaları Dergisi 6/1 (April 1, 2026): 7-12. https://doi.org/10.52818/cjmr.1829294.
JAMA
1.Küçüker M, Çekiç E, Akdoğan AI, Turamanlar O. Congenital Absence of the Patellae and Inferior Pubic Rami With Renal Hypoplasia: A Rare Case Report. CJMR. 2026;6:7–12.
MLA
Küçüker, Merve, et al. “Congenital Absence of the Patellae and Inferior Pubic Rami With Renal Hypoplasia: A Rare Case Report”. Güncel Tıbbi Araştırmaları Dergisi, vol. 6, no. 1, Apr. 2026, pp. 7-12, doi:10.52818/cjmr.1829294.
Vancouver
1.Merve Küçüker, Erkan Çekiç, Aslı Irmak Akdoğan, Ozan Turamanlar. Congenital Absence of the Patellae and Inferior Pubic Rami With Renal Hypoplasia: A Rare Case Report. CJMR. 2026 Apr. 1;6(1):7-12. doi:10.52818/cjmr.1829294