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Related Concept Videos

Bones of the Lower Limb: Femur and Patella01:16

Bones of the Lower Limb: Femur and Patella

The femur is the body's longest and strongest bone spanning the thigh region. Its head articulates with the acetabulum of the hip bone to form the hip joint. A minor indentation on the medial side of the femoral head, called the fovea capitis, serves as the site of attachment for the ligament of the head of the femur. This weak ligament spans the femur and acetabulum and supports the hip joint. The narrowed region below the head is the neck of the femur. The inclination angle between the neck...
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Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Knee Joint01:23

Knee Joint

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Mitral Valve Prolapse I: Introduction

IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
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Cystic Fibrosis: Pathogenesis

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Related Experiment Video

Updated: Jun 23, 2026

Athymic Rat Model for Evaluation of Engineered Anterior Cruciate Ligament Grafts
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Published on: March 26, 2015

Congenital patellar syndrome.

J Terrence Jose Jerome1, M Varghese, B Sankaran

  • 1Department of Orthopedics, St. Stephen's Hospital, Tiz Hazari, Delhi, India. terrencejose@gmail.com

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie
|May 13, 2009
PubMed
Summary

Congenital patellar syndrome, the bilateral absence of the patella, is a rare condition. This case study discusses an extremely rare instance of isolated patellar absence in a 9-year-old boy.

Area of Science:

  • Orthopedics
  • Genetics
  • Developmental Biology

Background:

  • Congenital patellar syndrome is characterized by the bilateral absence of the patella.
  • It is part of a diverse group of lower limb malformations, often linked to genetic disorders.
  • Isolated absence of the patella, without other associated anomalies, is exceptionally rare.

Observation:

  • This report details a case of congenital patellar syndrome in a 9-year-old boy.
  • The patient presented with bilateral, isolated absence of the patella.
  • No other congenital anomalies or genetic disorders were noted in this specific case.

Findings:

  • The study confirms the extreme rarity of isolated congenital patellar absence.
  • It highlights the importance of considering genetic heterogeneity in lower limb malformations.

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  • The case serves as an example of a rare presentation of patellar aplasia/hypoplasia.

    • Implications:

    • Understanding rare congenital conditions aids in accurate diagnosis and genetic counseling.
    • Further research into the genetic underpinnings of isolated patellar absence is warranted.
    • This case contributes to the literature on lower limb malformations and their isolated presentations.