Patella aplasia-hypoplasia is a rare condition characterized by the congenital absence or marked reduction of the patellar bone. It is well known that patella aplasia-hypoplasia occurs in nail-patella syndrome, small patella syndrome, and several other syndromes. However, isolated patella aplasia-hypoplasia without associated clinical or radiologic anomalies, first described by Kutz in 1949, is an extremely rare condition. This report describes 12 years' follow-up after medial patellofemoral ligament reconstruction surgery performed for bilateral recurrent patellar dislocation in a 29-year-old patient with isolated patella aplasia-hypoplasia. The patient had no radiographic findings of elbow abnormalities, exostoses of the ilia, or abnormal ossification of the ischiopubic junction. The right patella was severely subluxated, and the left patella was mildly subluxated. The preoperative Kujala score was 28 points for the right patella and 23 points for the left. Medial patellofemoral ligament reconstruction, wide lateral release, and patellaplasty with multiple drilling were done in July 1993 for the left knee and in August 1993 for the right. At 12 years' follow-up, the Kujala score was 68 points for the right patella and 73 points for the left, and the patient was satisfied with the result. Magnetic resonance images showed both patellae without subluxation and bulky regenerated ligaments.
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http://dx.doi.org/10.1016/j.arthro.2006.07.034 | DOI Listing |
Mol Genet Genomic Med
January 2024
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
J Am Acad Orthop Surg Glob Res Rev
September 2023
From the Division of Orthopaedic Surgery, Albany Medical Center, Albany, NY.
Case: A 10-year-old boy presented with bilateral absent patella and dislocation of the extensor mechanism in the left lower extremity. He underwent a lateral release and medial plication of the extensor mechanism with a Roux-Goldthwait procedure, followed by casting and bracing treatment. The patient fully recovered with a return to sports and improved active range of motion.
View Article and Find Full Text PDFJ Med Case Rep
September 2023
Department of Pediatric Orthopaedic Surgery, Children's Hospital "Bechir HAMZA", Medical School of Tunis, University Tunis-El Manar, Tunis, Tunisia.
Background: Isolated Patellar Aplasia Hypoplasia is a very rare autosomal dominant disorder. Its treatment depends on the clinical manifestations that can vary widely. The lack of active extension, which can be responsible for frequent falls due to a knee instability, is the most frequent and disabling manifestation.
View Article and Find Full Text PDFEur J Hum Genet
August 2023
Department of Biochemistry, University of Otago, Dunedin, New Zealand.
High-throughput sequencing has become a standard first-tier approach for both diagnostics and research-based genetic testing. Consequently, this hypothesis-free testing manner has revealed the true breadth of clinical features for many established genetic disorders, including Meier-Gorlin syndrome (MGORS). Previously known as ear-patella short stature syndrome, MGORS is characterized by growth delay, microtia, and patella hypo/aplasia, as well as genital abnormalities, and breast agenesis in females.
View Article and Find Full Text PDFVet Med Sci
May 2023
Department of Clinical Sciences, North Carolina State University College of Veterinary Medicine, Raleigh, North Carolina.
A 2-day-old Cleveland Bay colt was referred to the Equine Emergency Service of the Farm Animal and Equine Veterinary Medical Center at North Carolina State University's College of Veterinary Medicine for evaluation of decreased nursing behaviour and right hindlimb lameness of 2 days' duration. When assisted to stand, the foal was unable to extend either hindlimb or bear weight on the hindlimbs, the right patella was luxated laterally and unable to be reduced, and the foal assumed a crouched position. Stifle radiographs revealed minimal, heterogeneous, ill-defined ossification of both patellae.
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