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Minerva Pediatrica 2020 Jun 12

DOI: 10.23736/S0026-4946.20.05796-5


lingua: Inglese

Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example

Ali AL KAISSI 1, 2 , Sergey RYABYKH 3, Polina OCHIROVA 3, Sami BOUCHOUCHA 4, Vladimir KENIS 5, Mohammad SHBOUL 6, Rudolf GANGER 2, Franz GRILL 2, Susanne G. KIRCHER 7

1 First Medical Department, Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK, AUVA Trauma Centre Meidling, Hanusch Hospital, Vienna, Austria; 2 Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria; 3 Division Spine Pathology and Rare Diseases, Russian Scientific Ilizarov Center (RISC), Kurgan, Russia; 4 Pediatric Orthopedic Surgery, Children Hospital, Becher Hamza, Tunis, Tunisia; 5 Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Pushkin, Saint Petersburg, Russia; 6 Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, Jordan; 7 Department of Medical Chemistry, Medical University of Vienna, Vienna, Austria


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 with aged 6months- 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.

KEY WORDS: Multiple contractures; Webbings; Escobar syndrome; CHRNG mutation; CT scan

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