A Child with a Congenital Aplasia of the Scalp: A Quiz

Authors

  • Louis Dours Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations (MAGEC), University Hospital Center of Tours, Tours, France
  • Médéric Jeanne Department of Genetic, University Hospital Center of Tours, Tours, France; UMR 1253, iBrain, University of Tours, INSERM, Tours, France
  • Maya Srour Department of Pediatric Neurology, University Hospital Center of Tours, Tours, France
  • Sophie Leducq Department of Dermatology and Reference Center for Rare Diseases and Vascular Malformations (MAGEC), University Hospital Center of Tours, Tours, France

DOI:

https://doi.org/10.2340/actadv.v104.39948

Keywords:

cutis marmorata telangiectasia congenita, aplasia cutis congenita, terminal transverse limb defects

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References

Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Adams-Oliver syndrome review of the literature: refining the diagnostic phenotype. Am J Med Genet A 2017; 173: 790-800.

https://doi.org/10.1002/ajmg.a.37889 DOI: https://doi.org/10.1002/ajmg.a.37889

Suarez E, Bertoli MJ, Eloy JD, Shah SP. Case report and review of literature of a rare congenital disorder: Adams-Oliver syndrome. BMC Anesthesiol 2021; 21: 117-121.

https://doi.org/10.1186/s12871-021-01339-0 DOI: https://doi.org/10.1186/s12871-021-01339-0

Snape KMG, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009; 149A: 1860-1881.

https://doi.org/10.1002/ajmg.a.32708 DOI: https://doi.org/10.1002/ajmg.a.32708

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https://doi.org/10.1002/ajmg.a.35864 DOI: https://doi.org/10.1002/ajmg.a.35864

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, et al. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Hum Mutat 2015; 36: 593-598.

https://doi.org/10.1002/humu.22795 DOI: https://doi.org/10.1002/humu.22795

McGoey RR, Lacassie Y. Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant. Am J Med Genet A 2008; 146A: 488-491.

https://doi.org/10.1002/ajmg.a.32163 DOI: https://doi.org/10.1002/ajmg.a.32163

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https://doi.org/10.1002/humu.23567 DOI: https://doi.org/10.1002/humu.23567

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Published

2024-06-17

How to Cite

Dours, L., Jeanne, M., Srour, M., & Leducq, S. (2024). A Child with a Congenital Aplasia of the Scalp: A Quiz. Acta Dermato-Venereologica, 104, adv39948. https://doi.org/10.2340/actadv.v104.39948

Issue

Vol. 104 (2024)

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Quiz

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Copyright (c) 2024 Louis Dours, Médéric Jeanne, Maya Srour, Sophie Leducq

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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Unless otherwise specified, all Open Access articles are published under CC-BY-NC licences, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material for non-commercial purposes, provided proper attribution to the original work.

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