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DOI: 10.1055/s-0043-1777362
Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation
Funding None.
Abstract
Background Microtia is an uncommon congenital malformation ranging from mild anatomic structural abnormalities to partial or complete absence of the ear leading to hearing impairment. Congenital microtia may present as a single malformation (isolated microtia) or sometimes associated with other congenital anomalies involving various organs. Microtia has been classified in three degrees according to the complexity of the auricular malformation and to anotia referred to the total absence of the ear. Genetic role in causing auricular malformation has been widely demonstrated, and genotype–phenotype correlation has been reported in cases of syndromic microtia.
Case Presentation We report here a young patient with a third degree of scale classification and aural atresia. The patient showed unspecific facial dysmorphism, speech delay, precocious teething, hair white patch, and stereotypic anomalous movements. Genetic analysis displayed a de novo 16p13.11 deletion.
Conclusion Microtia with aural atresia is an uncommon and severe birth defect, which affects functional and esthetic aspects, often associated with other malformations. As traumatic this disorder may be for the parents, the microtia and aural atresia are treatable, thanks to the improving and evolving surgical techniques. Based on the genetic analysis and the clinical features observed in the present case, a genotype–phenotype correlation has been proposed.
Ethics Approval and Consent to Participate
The research was conducted ethically in accordance with the World Medical Association Declaration of Helsinki and approved by ethics committee of the University of Catania, Italy (Ethical Committee Catania 1 Clinical Registration n. 95/2018/PO). Written informed consent was obtained from parents.
Consent for Publication
Written informed consent for publication of their clinical details was obtained from the patient's parents. A copy of the consent form is available for review by the editor of this journal.
Availability of Data and Materials
All data generated or analyzed during this study are included in this published article.
Authors' Contribution
P.P. and X.G.P. wrote the manuscript. P.P. worked with and helped gather patient data. X.G.P. and E.P. helped analyze the genetic data. A.C. and M.R. contributed to the clinical understanding of the case and revised the manuscript. G.C. and R.F. were called as consultants regarding the diagnosis and reviewed the manuscript. All authors read and approved the final manuscript.
* These authors should be considered the joint first author.
Publication History
Article published online:
04 December 2023
© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)
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