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Unilateral Sensorineural Hearing Loss in Johnson-Blizzard Syndrome: A Rare Case Report

Year: 2025

Type: article

Abstract: Introduction: Johnson-Blizzard syndrome is a rare autosomal recessive disorder characterized by a wide range of manifestations, including exocrine pancreatic insufficiency, aplasia or hypoplasia of the nasal alae, scalp defects, microcephaly, growth retardation, mental retardation, sensorineural hearing loss, hypothyroidism, urogenital abnormalities, imperforate anus, and cardiac anomalies. Hearing loss in these patients is often bilateral. Case Presentation: In this case report, we present a 5-year-old child with a known diagnosis of Johnson-Blizzard syndrome, exhibiting symptoms of growth retardation, exocrine pancreatic insufficiency, a history of imperforate anus, fecal incontinence, and a nasal deformity. Evaluation revealed unilateral hearing loss in this patient. Conclusions: The wide range of clinical manifestations in Johnson-Blizzard syndrome highlights the importance of a comprehensive assessment and multidisciplinary management approach for these patients. Early recognition and intervention can significantly improve the quality of life for individuals affected by this rare genetic disorder.

Source: Journal of Comprehensive Pediatrics

DOI: 10.5812/jcp-157282