Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example.
| Autor: | Al Kaissi A; Ludwig Boltzmann Institute of Osteology, the Hanusch Hospital of WGKK, Vienna, Austria - ali.alkaissi@oss.at.; AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria - ali.alkaissi@oss.at., Ryabykh S; Department of Paediatrics, Orthopedic Hospital of Speising, Vienna, Austria., Ochirova P; Department of Paediatrics, Orthopedic Hospital of Speising, Vienna, Austria., Bouchoucha S; Division Spine Pathology and Rare Diseases, Russian Scientific Ilizarov Center (RISC), Kurgan, Russia., Kenis V; Department of Pediatric Orthopedic Surgery, Children Hospital (Becher Hamza), Tunis, Tunisia., Shboul M; Department of Foot and Ankle Surgery, Neuro-orthopedics and Systemic Disorders, H. Turner Pediatric Orthopedic Institute, Saint Petersburg, Russia., Ganger R; AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria., Grill F; AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria., Kircher SG; Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, Jordan. |
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| Jazyk: | angličtina |
| Zdroj: | Minerva pediatrics [Minerva Pediatr (Torino)] 2024 Feb; Vol. 76 (1), pp. 30-36. Date of Electronic Publication: 2020 Jun 12. |
| DOI: | 10.23736/S2724-5276.20.05796-5 |
| Abstrakt: | Background: Children born with multiple congenital contractures have been almost always given the diagnosis of arthrogryposis multiplex congenita. Arthrogryposis is a descriptive term, not a specific disease entity. A heterogeneous group of conditions associated with multiple congenital joint contractures (mostly syndromic) should be considered. Methods: The records of seven children (four boys and three girls aged 6 months - 11 years) of different ethnic origins have been included in this study. The constellation of specific craniofacial dysmorphic features, spine malformation complex, and appendicular skeletal abnormalities in addition to camptodactyly, talipes equinovarus and rocker-bottom feet were a cluster of malformation complex encountered in our patients. Via comprehensive clinical and imaging study (3D reconstruction CT scan), definite diagnosis of Escobar Syndrome has been approached. Results: The clinical and imaging phenotype was the key factor towards etiological understanding, treatment and genotype confirmation. We identified compound heterozygous mutations (c.459dupA [p.Val154Serfs*24] and c.794T>G [p.Leu265Serfs*24] of the CHRNG gene in four patients. Bilateral flexion contractures of the knees have been treated by using Iliazarov external fixator. Simultaneous corrections of scoliosis have been achieved by applying either dual traditional growing rods or single growing rods. Conclusions: The clinical and radiological phenotypic characterizations are the fundamental tool in differentiating Escobar from other forms of multiple contractures. The aim of this study are three folds, firstly to demonstrate the importance of detecting the etiological understanding in children presented with multiple contractures, secondly to refute the general conception among the vast majority of pediatricians and orthopedic surgeons that arthrogryposis multiplex is a diagnostic entity. And thirdly, we were able to detect severe spine deformity via 3D reconstruction CT scan, namely unsegmented posterior spinal bar. |
| Databáze: | MEDLINE |
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