Spine malformation complex in 3 diverse syndromic entities: Case reports
Ali Al Kaissi1, Andreas van Egmond-Fröhlich, Sergey Ryabykh
1Ludwig Boltzmann Institute of Osteology, the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital Orthopaedic Hospital of Speising, Paediatric Department Department of Pediatrics, Kaiser-Franz-Josef Spital, Vienna, Austria Axial Skeleton and Neurosurgery Department, Restorative Traumatology and Orthopaedics, Ilizarov Center, Kurgan, Russia Pediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Saint-Petersburg, Russia Institute of Medical Chemistry, Medical University of Vienna, Austria.
Early diagnosis of congenital spine deformities like kyphosis is crucial. Identifying syndromic associations in infants improves management and prognosis for conditions such as Larsen syndrome.
Area of Science:
- Pediatric Orthopedics
- Clinical Genetics
- Radiology
Background:
- Congenital cervico-thoracic kyphosis is a major deformity in three syndromic disorders.
- Clinical and radiographic phenotypic characterizations are essential diagnostic tools.
Purpose of the Study:
- To highlight the importance of early diagnosis and etiological understanding in children with complex malformations.
- To sensitize healthcare professionals about syndromic associations of spinal deformities.
Main Methods:
- Phenotypic and genotypic confirmation for diagnosis.
- Detailed clinical and radiographic documentation of spinal and appendicular abnormalities.
- Surgical interventions were performed for Larsen syndrome and Morquio syndrome type A.
Main Results:
- Early diagnosis in the first year of life significantly favors child's growth and development.
- Clearer prognosis for families and medical staff is achieved with early etiological diagnosis.
- Congenital spine tilting severity depends on vertebral malformation type and patient phenotype.
Conclusions:
- Scoliosis and kyphosis are symptoms of underlying syndromic associations, not diagnoses themselves.
- Accurate diagnosis requires identifying the specific syndromic entity.
- Timely intervention based on early diagnosis improves outcomes for congenital spinal deformities.
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