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CC BY 4.0 · Glob Med Genet 2023; 10(04): 370-375
DOI: 10.1055/s-0043-1777362
Case Report

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

Piero Pavone   *
1   Section of Paediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
Xena Giada Pappalardo   *
2   Unit of Catania, Institute for Biomedical Research and Innovation, National Council of Research, Catania, Italy
,
Claudia Parano
3   Department of General Surgery and Medical-Surgical Specialties, University of Catania, Catania, Italy
,
Enrico Parano
2   Unit of Catania, Institute for Biomedical Research and Innovation, National Council of Research, Catania, Italy
,
Antonio Corsello
4   Neonatal Intensive Care Unit, Department of Sciences for Health Promotion, Maternal Infant Care, Internal Medicine and Medical Specialties “G. D'Alessandro,” University Hospital “P. Giaccone,” Palermo, Italy
,
Martino Ruggieri
5   Section of Paediatrics and Child Neuropsychiatry, Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
Giovanni Cacciaguerra
5   Section of Paediatrics and Child Neuropsychiatry, Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
,
Raffaele Falsaperla
6   Neonatal Intensive Care Unit, AUO Policlinico “Rodolico-San Marco,” University of Catania, Catania, Italy
7   Acute End Emergency Pediatric Unit, Department of General Pediatrics, AUO Policlinico “Rodolico-San Marco,” University of Catania, Catania, Italy
› Author Affiliations Funding None.
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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.

Keywords

case report - microtia - 16p13.11 deletion - genotype–phenotype correlation

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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