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01-03-2020 | Scoliosis | Letter to the Editor

A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome

Authors: Valentina Pelliccia, Silvia Ferranti, Rosa Mostardini, Salvatore Grosso

Published in: Neurological Sciences | Issue 3/2020

Excerpt

16p11.2 microdeletion syndrome is a rare disorder that can exhibit a wide range of clinical phenotypes including hypotonia, macrocephaly, mental, motor, and speech retardation, behavioral problems, autism spectrum disorders, hyperphagia, and obesity [1, 2]. Some cases with feeding difficulties and short stature were described. Moreover, congenital malformations, dysmorphic features, and epileptic seizures are possible [2, 3]. …

Bamonte L (2015 Spring) Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome. Pediatr Phys Ther 27(1):90–99. https://doi.org/10.1097/PEP.0000000000000105CrossRefPubMed

Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder LA, D'Angelo D, Chen Q, Chung WK, Sherr EH, on behalf of the Simons VIP Consortium (2016) 16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A 170(11):2943–2955. https://doi.org/10.1002/ajmg.a.37820CrossRefPubMed

Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S, on behalf of the Simons VIP Consortium, on behalf of the 16p11.2 European Consortium (2012) A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet 49(10):660–668. https://doi.org/10.1136/jmedgenet-2012-101203CrossRefPubMedPubMedCentral

Bürk K (2017) Friedreich ataxia: current status and future prospects. Cerebellum Ataxias 4:4. https://doi.org/10.1186/s40673-017-0062-xCrossRefPubMedPubMedCentral

Cook A, Giunti P (2017) Friedreich’s ataxia: clinical features, pathogenesis and management. Br Med Bull 124(1):19–30. https://doi.org/10.1093/bmb/ldx034CrossRefPubMedPubMedCentral

Title: A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome
Authors: Valentina Pelliccia
Silvia Ferranti
Rosa Mostardini
Salvatore Grosso
Publication date: 01-03-2020
Publisher: Springer International Publishing
Keyword: Scoliosis
Published in: Neurological Sciences / Issue 3/2020
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-019-04075-z

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A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome

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