Deformity-Correcting Ankle Fusions With Patient-Specific 3D Operative Planning and 3D-Printed Cut Guides: Report of 2 Cases.

Case: We report 2 cases of severe arthrogrypotic clubfeet presenting with multiplanar ankle deformities. Two patients (3 ankles) were treated with deformity-correcting ankle fusions using 3D preoperative planning and 3D-printed patient-specific cut guides. This technique enabled safe, accurate, and efficient surgical correction with good clinical outcomes.

Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.

Background: Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in XRCC1 have been found to cause autosomal recessive spinocerebellar ataxia-26 (SCAR26) now considered AOA5.

Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome.

Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia.

Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia.