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Gazzetta Medica Italiana - Archivio per le Scienze Mediche 2021 June;180(6):316-21

DOI: 10.23736/S0393-3660.20.04534-9


lingua: Inglese

The clinical and radiographic phenotypic characterization of a girl with multiple malformation complex resembling Idaho Syndrome

Ali AL KAISSI 1, 2 , Zulfiya BETADOLOVA 3, Rudolf GANGER 2, Rainer WUNN 4, Guseyn RUSTAMOV 5, Vladimir KENIS 6, Susanne G. KIRCHER 7

1 Ludwig-Boltzmann Institute of Osteology, First Medical Department, Hanusch Hospital of OEGK, AUVA Trauma Center Meidling, Vienna, Austria; 2 Orthopedic Hospital of Speising, Department of Pediatrics, Vienna, Austria; 3 Kidney Pediatric Clinic, Makhachkala, Russia; 4 Institut for CT und MRI am Schillerpark, Linz, Austria; 5 Department of Pediatric Orthopedic and Trauma Surgery, State Hospital of Republic of Dagestan, Makhachkala, Russia; 6 Department of Foot and Ankle Surgery, Neuro-orthopedics and Systemic Disorders, Pediatric Orthopedic Institute n.a. H. Turner, Saint Petersburg, Russia; 7 Institute of Medical Chemistry, Medical University of Vienna, Vienna, Austria

We describe the case of a 10-month-old girl, born with multiple malformation complex. At birth she presented with multiple contractures associated with multiple dislocations. Craniofacial dysmorphic features were evident because of early closure of the metopic and the lambdoid sutures causing in effect, the development of abnormal craniofacial contour, facial asymmetry and a flattening of the occipital bones (brachycephaly) associated with extreme bulging of the frontal area. The overall clinical and radiographic phenotypic characterizations were to certain extent resembling but not diagnostic of Idaho Syndrome. The patient’s main concerns and important clinical findings: craniosynostosis, multiple dislocations, retarded developmental milestones, family history of multiple spontaneous abortions and congenital vascular malformation in two paternal siblings. The primary diagnoses, interventions, and outcomes: Highly likely a novel syndromic association, hip dislocation was dealt with through open reduction and the joint contractures required femoral osteotomy. Ponseti method for correctness of the club foot have failed, re-interventions are suspended until the final results of the whole exome sequencing. The constellation of craniosynostosis, multiple contractures in connection with dysplastic dislocated hips, bilateral knee dislocation and bilateral talipes equinovarus might be considered an extra-phenotypic feature in Idaho syndrome. Family history revealed two paternal male siblings with a history of operated aortic and cerebral aneurysms. We believe that the constellation of craniofacial, skeletal and vascular malformation complex is in predilection of a novel syndromic entity.

KEY WORDS: Contracture; Craniosynostoses; Case reports

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