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Case 278: Mutation in ROBO3 Gene-Horizontal Gaze Palsy and Progressive Scoliosis.
Scortegagna, Felipe Alba; Pacheco, Felipe T; Nunes, Renato Hoffmann; Serpa, Aline; Migliavacca, Michele Patricia; da Rocha, Antonio José.
  • Scortegagna FA; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.)
  • Pacheco FT; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.)
  • Nunes RH; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.)
  • Serpa A; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.)
  • Migliavacca MP; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.)
  • da Rocha AJ; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.)
Radiology ; 295(3): 736-740, 2020 06.
Article en En | MEDLINE | ID: mdl-32421468
ABSTRACT
HistoryA 13-year-old girl was born to consanguineous parents. She presented with mild intellectual impairment, convergent strabismus, horizontal gaze palsy, and bilateral abducens palsy. Vertical gaze was preserved, and no abnormalities suggesting facial paralysis were noted. In addition, she reported progressive back pain since she was 5 years old. Other symptoms were denied. No medications or related drugs had been administered thus far. The patient underwent brain MRI for further evaluation. Current and previous spine radiographs were also reviewed.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Escoliosis / Análisis Mutacional de ADN / Oftalmoplejía Externa Progresiva Crónica / Receptores de Superficie Celular Límite: Adolescent / Female / Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Escoliosis / Análisis Mutacional de ADN / Oftalmoplejía Externa Progresiva Crónica / Receptores de Superficie Celular Límite: Adolescent / Female / Humans Idioma: En Año: 2020 Tipo del documento: Article