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<p>Tietz syndrome is a rare autosomal dominant disorder characterized by congenital sensorineural hearing loss and generalized hypopigmentation. Early recognition is crucial for genetic counseling and management.We report a case series of three siblings, born to consanguineous parents, presenting with congenital albinism of the skin and hair, blue irises, and profound bilateral sensorineural hearing loss. No craniofacial malformations or additional ophthalmological abnormalities were identified. Neuroimaging and auditory testing confirmed the diagnosis. This report adds to the limited literature on Tietz syndrome and highlights the importance of genetic evaluation in similar presentations.This case series highlights the importance of considering Tietz syndrome in patients with congenital deafness and albinism. Early diagnosis allows for appropriate audiological rehabilitation and genetic counseling. Our report expands the clinical spectrum of Tietz syndrome and underlines the need for multidisciplinary care.</p>

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Tietz Syndrome: A Case Series of Three Siblings with Congenital Albinism and Sensorineural Deafness

  • 期刊论文

  • 发表日期：

    2025年7月1日

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  • Karim Messaoudi,
  • Ait Mesbah Nassim,
  • Yahi Nadia

摘要

Tietz syndrome is a rare autosomal dominant disorder characterized by congenital sensorineural hearing loss and generalized hypopigmentation. Early recognition is crucial for genetic counseling and management.We report a case series of three siblings, born to consanguineous parents, presenting with congenital albinism of the skin and hair, blue irises, and profound bilateral sensorineural hearing loss. No craniofacial malformations or additional ophthalmological abnormalities were identified. Neuroimaging and auditory testing confirmed the diagnosis. This report adds to the limited literature on Tietz syndrome and highlights the importance of genetic evaluation in similar presentations.This case series highlights the importance of considering Tietz syndrome in patients with congenital deafness and albinism. Early diagnosis allows for appropriate audiological rehabilitation and genetic counseling. Our report expands the clinical spectrum of Tietz syndrome and underlines the need for multidisciplinary care.