Waardenburg Syndrome: A Report of a Rare Case.

Autor:	Ilyaz M; Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Center, Dr. D. Y. Patil Vidyapeeth, Pune (Deemed to be University), Pune, IND., Jadhav RS; Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Center, Dr. D. Y. Patil Vidyapeeth, Pune (Deemed to be University), Pune, IND., Pande V; Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Center, Dr. D. Y. Patil Vidyapeeth, Pune (Deemed to be University), Pune, IND., Mane S; Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Center, Dr. D. Y. Patil Vidyapeeth, Pune (Deemed to be University), Pune, IND.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Jul 29; Vol. 16 (7), pp. e65704. Date of Electronic Publication: 2024 Jul 29 (Print Publication: 2024).
DOI:	10.7759/cureus.65704
Abstrakt:	Waardenburg syndrome (WS) is a rare autosomal genetic disorder characterized by oculocutaneous pigmentation defects, congenital deafness, dystopia canthorum, and a broad nasal root. It exhibits both genetic and clinical heterogeneity. This report presents a case of a 17-month-old male child who was brought to the Outpatient Department with complaints of hearing impairment and speech delay. Clinical examination revealed classic signs of WS, including iris pigmentary abnormality (brilliant blue iris), hair hypopigmentation (white forelock), dystopia canthorum, a broad nasal root, and a hypopigmented patch on the left arm. Based on the clinical features, the case was classified as WS Type I. This case underscores the importance of early recognition and diagnosis of WS for timely management and genetic counseling, particularly in pediatric patients with hearing impairment and distinctive pigmentation anomalies. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Ilyaz et al.)
Databáze:	MEDLINE
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