Waardenburg Syndrome: A Report of a Rare Case
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...
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| Veröffentlicht in: | Curēus (Palo Alto, CA) CA), 2024-07, Vol.16 (7), p.e65704 |
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| creator | Ilyaz, Md Jadhav, Renuka S Pande, Vineeta Mane, Shailaja |
| description | 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. |
| doi_str_mv | 10.7759/cureus.65704 |
| format | Article |
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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. 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| subjects | Case reports Cochlear implants Congenital diseases Deafness Families & family life Genetic counseling Genetic disorders Hearing loss Mutation Otology Patients Pediatrics Quality of life Transplants & implants |
| title | Waardenburg Syndrome: A Report of a Rare Case |
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