Abstract
BACKGROUND: Meyer-Gorlin syndrome is a rare genetic and autosomal recessive disease that is characterized by the classical triad, including, microtia, very small size or complete patellar absence, and nanism.
CLINICAL CASE: Herein, presented the first clinical case description of a Russian patient with Meyer-Gorlin syndrome in combination with congenital anterior shin dislocation. The main clinical disease manifestations are characterized by a combination of microtia, patellar pathology, and dwarfism.
DISCUSSION: In the practice of pediatric orthopedic surgeons, cases of congenital knee dislocations are extremely rare, especially as part of any syndromes, which cause interest in the presented clinical case publication. Our patient analysis, as well as the patients described in the literature, showed the presence of typical clinical manifestations, which allowed us to suspect the presence of Meyer-Gorlin syndrome during a clinical examination.
CONCLUSIONS: This report is the first case of combined congenital knee dislocation and Meyer-Gorlin syndrome with a diagnostic triad (short stature, microtia, and patellar aplasia) in the Russian Federation. Conservative treatment with constant traction and flexion must be carefully performed to avoid complications. Without the effect of conservative therapy, surgical treatment is indicated.
Subject
Orthopedics and Sports Medicine,Surgery,Pediatrics, Perinatology and Child Health
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