The Orthopedic Strategy for Patients with Larsen Syndrome

• DOI: 10.3390/std14020010
• Publication Date: 2025-03-25T16:18:52Z
• Authors: Ali Al Kaissi; Alexander Gubin; Sergey Ryabykh; Vasileios Dougales; Hamza Al Kaissi; Susanne Gerit Kir...; Franz Grill

Background: Facial features are the first basic sign of medical knowledge children and adults with congenital malformations. Children born multiple contractures almost always receive misdiagnosis arthrogryposis multiplex. Larsen syndrome can easily be diagnosed at birth via proper interpretations its characteristic facial dislocations. Comprehensive clinical diagnosis facilitate an orthopedic strategy for early treatment enhance recognition unreported craniocervical malformation complexes. Material Methods: Six (four boys two girls, ages ranging from a few months to 7 years old) were referred our department treatment. All received their by pediatricians as manifesting multiplex congenita. The phenotype was decisive tool diagnosis. exhibited classical dish-like facies associated joint Radiological phenotypic characteristics confirmed syndrome. Three out six showed unpleasant cervical spine deformities. child, 2-year-old, became tetraplegic after minor trauma. One child presented progressive rigid kyphosis. third product first-relative marriage tetraplegia. A genotype carried confirmation. Results: underwent open reduction hip knee spinal fusion CO-C7 because 3D-reformatted reconstruction CT scan junction forms unusual dys-segmentation, firstly along C2-3 effectively causing development acute-angle Secondly, infant tetraplegia serious previously undescribed atlanto–axial complex. Namely, maldevelopment (dys-segmentation) (C1/C2) hypoplasia anterior posterior rings atlas. Genetic tests these compatible autosomal dominant type manifested heterozygous mutation in FLNB mapped 3p14.3, encoding actin-binding protein, filamin B. no mutations FLNB, though his radiological family history totally recessive Conclusions: Our still is based on coherent diagnosis, which comprehensive characterizations. We implemented further understand pathology three children. Strikingly, prenatal onset lethal segments has been tetraplagia. less detected who cervico cervico-thoracic form basis thorough assessment infants complexes lead novel understandings.