The Orthopedic Strategy for Patients with Larsen Syndrome
<b>Background:</b> Facial features are the first basic sign of medical knowledge of children and adults with congenital malformations. Children born with multiple contractures almost always receive the misdiagnosis of arthrogryposis multiplex. Larsen syndrome can easily be diagnosed at b...
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2025-03-01
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| author | Ali Al Kaissi Alexander Gubin Sergey Ryabykh Vasileios Dougales Hamza Al Kaissi Susanne Gerit Kircher Franz Grill |
| author_facet | Ali Al Kaissi Alexander Gubin Sergey Ryabykh Vasileios Dougales Hamza Al Kaissi Susanne Gerit Kircher Franz Grill |
| author_sort | Ali Al Kaissi |
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| description | <b>Background:</b> Facial features are the first basic sign of medical knowledge of children and adults with congenital malformations. Children born with multiple contractures almost always receive the misdiagnosis of arthrogryposis multiplex. Larsen syndrome can easily be diagnosed at birth via the proper interpretations of its characteristic facial features and multiple dislocations. Comprehensive clinical diagnosis can facilitate an orthopedic strategy for early treatment and can enhance the recognition of unreported craniocervical malformation complexes. <b>Material and Methods:</b> Six children (four boys and two girls, with ages ranging from a few months to 7 years old) were referred to our department for diagnosis and treatment. All children received their first misdiagnosis by the pediatricians as manifesting arthrogryposis multiplex congenita. The clinical phenotype was our first decisive tool for diagnosis. All children exhibited the classical phenotype of dish-like facies associated with multiple joint dislocations. Radiological phenotypic characteristics confirmed our clinical diagnosis of Larsen syndrome. Three children out of six showed unpleasant cervical spine deformities. The first child, a 2-year-old, became tetraplegic after minor trauma. One child presented with progressive rigid cervical kyphosis. The third child was a product of a first-relative marriage and was born with congenital tetraplegia. A genotype was carried out for confirmation. <b>Results:</b> Three children underwent open reduction for congenital hip and knee dislocations. One child underwent spinal fusion CO-C7 because of tetraplegia. A 3D-reformatted and reconstruction CT scan of the craniocervical junction showed two forms of unusual dys-segmentation, firstly along C2-3 effectively causing the development of acute-angle cervical kyphosis. Secondly, an infant with congenital tetraplegia showed a serious previously undescribed atlanto–axial malformation complex. Namely, atlanto–axial maldevelopment (dys-segmentation) of (C1/C2) was associated with hypoplasia of the anterior and the posterior rings of the atlas. Genetic tests of these children were compatible with the autosomal dominant type of Larsen syndrome and manifested a heterozygous mutation in <i>FLNB mapped 3p14.3</i>, encoding an actin-binding protein, filamin B. The child with congenital tetraplegia showed no mutations in <i>FLNB</i>, though his clinical and radiological phenotype and his family history of first-relative marriage were totally compatible with the diagnosis of the autosomal recessive type of Larsen syndrome. <b>Conclusions</b>: Our strategy was and still is based on a coherent clinical and radiological diagnosis, which is based on comprehensive clinical and radiological phenotypic characterizations. We implemented a 3D-reformatted CT scan to further understand the craniocervical junction pathology in three children. Strikingly, prenatal onset of lethal maldevelopment (dys-segmentation) of the atlanto–axial spine segments has been diagnosed in an infant with congenital tetraplagia. A less serious cervical spine malformation was detected in two children who presented with progressive acute-angle cervico and cervico-thoracic kyphosis. Our clinical strategy can form the basis for a thorough clinical assessment for infants and children born with multiple malformation complexes and can lead to recognition of novel understandings. |
| format | Article |
| id | doaj-art-2e9f0299884743de89c0217f3e3ff0ca |
| institution | Kabale University |
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| language | English |
| publishDate | 2025-03-01 |
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| series | Surgical Techniques Development |
| spelling | doaj-art-2e9f0299884743de89c0217f3e3ff0ca2025-08-20T03:29:44ZengMDPI AGSurgical Techniques Development2038-95822025-03-011421010.3390/std14020010The Orthopedic Strategy for Patients with Larsen SyndromeAli Al Kaissi0Alexander Gubin1Sergey Ryabykh2Vasileios Dougales3Hamza Al Kaissi4Susanne Gerit Kircher5Franz Grill6National Medical Research Center for Traumatology and Orthopedics n.a. G.A. Ilizarov, Kurgan 640014, RussiaDepartment of Spine Surgery-Saint-Petersburg State University Hospital, Saint-Petersburg 190103, RussiaPirogov Russian National Research Medical University-Veltischev Clinical Institute, Moscow 117997, RussiaDepartment of Orthopedic Surgery and Traumatology, Kantonsspital Aarau, 5001 Aarau, SwitzerlandPsoriSol Hospital, Mühlstrasse 31, 91217 Nuremberg, GermanyCenter of Medical Patho-Chemistry and Genetics, Medical University of Vienna, 1090 Wien, AustriaPediatric Department, Orthopedic Hospital of Speising, 1130 Vienna, Austria<b>Background:</b> Facial features are the first basic sign of medical knowledge of children and adults with congenital malformations. Children born with multiple contractures almost always receive the misdiagnosis of arthrogryposis multiplex. Larsen syndrome can easily be diagnosed at birth via the proper interpretations of its characteristic facial features and multiple dislocations. Comprehensive clinical diagnosis can facilitate an orthopedic strategy for early treatment and can enhance the recognition of unreported craniocervical malformation complexes. <b>Material and Methods:</b> Six children (four boys and two girls, with ages ranging from a few months to 7 years old) were referred to our department for diagnosis and treatment. All children received their first misdiagnosis by the pediatricians as manifesting arthrogryposis multiplex congenita. The clinical phenotype was our first decisive tool for diagnosis. All children exhibited the classical phenotype of dish-like facies associated with multiple joint dislocations. Radiological phenotypic characteristics confirmed our clinical diagnosis of Larsen syndrome. Three children out of six showed unpleasant cervical spine deformities. The first child, a 2-year-old, became tetraplegic after minor trauma. One child presented with progressive rigid cervical kyphosis. The third child was a product of a first-relative marriage and was born with congenital tetraplegia. A genotype was carried out for confirmation. <b>Results:</b> Three children underwent open reduction for congenital hip and knee dislocations. One child underwent spinal fusion CO-C7 because of tetraplegia. A 3D-reformatted and reconstruction CT scan of the craniocervical junction showed two forms of unusual dys-segmentation, firstly along C2-3 effectively causing the development of acute-angle cervical kyphosis. Secondly, an infant with congenital tetraplegia showed a serious previously undescribed atlanto–axial malformation complex. Namely, atlanto–axial maldevelopment (dys-segmentation) of (C1/C2) was associated with hypoplasia of the anterior and the posterior rings of the atlas. Genetic tests of these children were compatible with the autosomal dominant type of Larsen syndrome and manifested a heterozygous mutation in <i>FLNB mapped 3p14.3</i>, encoding an actin-binding protein, filamin B. The child with congenital tetraplegia showed no mutations in <i>FLNB</i>, though his clinical and radiological phenotype and his family history of first-relative marriage were totally compatible with the diagnosis of the autosomal recessive type of Larsen syndrome. <b>Conclusions</b>: Our strategy was and still is based on a coherent clinical and radiological diagnosis, which is based on comprehensive clinical and radiological phenotypic characterizations. We implemented a 3D-reformatted CT scan to further understand the craniocervical junction pathology in three children. Strikingly, prenatal onset of lethal maldevelopment (dys-segmentation) of the atlanto–axial spine segments has been diagnosed in an infant with congenital tetraplagia. A less serious cervical spine malformation was detected in two children who presented with progressive acute-angle cervico and cervico-thoracic kyphosis. Our clinical strategy can form the basis for a thorough clinical assessment for infants and children born with multiple malformation complexes and can lead to recognition of novel understandings.https://www.mdpi.com/2038-9582/14/2/10orthopedic strategyLarsen syndromeligamentous hyperlaxitymaldevelopment of the atlanto–axial jointscongenital lethal tetraplagiaCT scan |
| spellingShingle | Ali Al Kaissi Alexander Gubin Sergey Ryabykh Vasileios Dougales Hamza Al Kaissi Susanne Gerit Kircher Franz Grill The Orthopedic Strategy for Patients with Larsen Syndrome Surgical Techniques Development orthopedic strategy Larsen syndrome ligamentous hyperlaxity maldevelopment of the atlanto–axial joints congenital lethal tetraplagia CT scan |
| title | The Orthopedic Strategy for Patients with Larsen Syndrome |
| title_full | The Orthopedic Strategy for Patients with Larsen Syndrome |
| title_fullStr | The Orthopedic Strategy for Patients with Larsen Syndrome |
| title_full_unstemmed | The Orthopedic Strategy for Patients with Larsen Syndrome |
| title_short | The Orthopedic Strategy for Patients with Larsen Syndrome |
| title_sort | orthopedic strategy for patients with larsen syndrome |
| topic | orthopedic strategy Larsen syndrome ligamentous hyperlaxity maldevelopment of the atlanto–axial joints congenital lethal tetraplagia CT scan |
| url | https://www.mdpi.com/2038-9582/14/2/10 |
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