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- W2490968689 abstract "OBJECTIVE: To identify the cause of torticollis in a young patientBACKGROUND: Torticollis during infancy or early childhood has been associated with various genetic conditions. A 13-year-old right-handed boy was referred for evaluation of a 7-year-history of slow involuntary head turns to the left aggravated by walking.DESIGN/METHODS: Clinical examination, MRI of the brain, and genetic testing.RESULTS:The patient’s history is notable for delayed walking at 20 months and talking at age 3. He attended special education. Since birth he had horizontal gaze palsy with intact vertical gaze, causing difficulties with eye contact, crossing wide streets, and tracking rapid actions. He was diagnosed with 71-degree scoliosis at age 10. His 22 year-old brother also had horizontal gaze palsy and progressive scoliosis. Not known to be consanguineous, the parents were from the same village in Central America.On exam there was scoliosis and left esotropia with intact vertical eye movement but no horizontal eye movement. At times the patient would slowly turn his head to the left.His brain MRI showed pontine hypoplasia and butterfly medulla with deep midline clefts in the pons and medulla, which are classic findings of horizontal gaze palsy with progressive scoliosis (HGPPS) caused by biallelic mutations in the ROBO3 gene.Targeted genetic testing revealed that both affected brothers were homozygous for a novel nonsense mutation in ROBO3: c.873G>A; p.W291X. His mother was confirmed to be a heterozygous carrier.CONCLUSIONS:Torticollis in the young is genetically heterogeneous. The observation of comorbid HGPPS facilitated the genetic diagnosis for torticollis in our patients. The firm diagnosis of HGPPS provides the patients and family with clear information on prognosis and management. Disclosure: Dr. Baek has nothing to disclose. Dr. Jen has nothing to disclose. Dr. Mamsa has nothing to disclose." @default.
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- W2490968689 date "2016-04-05" @default.
- W2490968689 modified "2023-09-24" @default.
- W2490968689 title "Novel Homozygous Nonsense Mutation in the ROBO3 gene causing Torticollis and Horizontal Gaze Palsy with Progressive Scoliosis: A Tale of Two Brothers (P5.143)" @default.
- W2490968689 hasPublicationYear "2016" @default.
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