A rare case of seven siblings with Waardenburg syndrome: a case report

• Main Authors: Luma Haj Kassem, Mohamed Fares Ahmado, Majd Sheikh Alganameh
• Format: Article
• Language: English
• Published: BMC 2018-07-01
• Series: Journal of Medical Case Reports
• Subjects: Waardenburg syndrome; Type 2; Siblings; Hearing loss; Heterochromia; Mutation De novo
• Online Access: http://link.springer.com/article/10.1186/s13256-018-1704-1

Abstract Background Waardenburg syndrome is a group of rare genetic conditions. It is determined by the absence of melanocytes from the eyes, hair, and skin. There are four types of Waardenburg syndrome with specific criteria to diagnosis the different types. The main clinical manifestations are facial abnormalities, pigmentary defects, and hearing loss with no specific predilection with regard to sex or race. Case presentation An Arabic Syrian family, consisting of 14 siblings from third-degree relative parents with a low income, living in the Syrian countryside, presented to our institute with their 8-year-old son who had congenital hearing loss that had led to his inability to speak. He has six siblings who had congenital sensory hearing loss proven by auditory brainstem response tests at an early age. An otoacoustic emissions test and a pure-tone audiogram were performed for our patient and showed sensory hearing loss. An interesting feature in the last seven siblings was that some of them have heterochromia iris, and the others have segmental heterochromia in their iris. An ophthalmology consultation was performed to detect any other features or disorders. A dermatology consultation, laboratory tests, and chest X-ray were also performed for all the siblings and revealed no abnormalities. There was no history for musculoskeletal system or intestinal disorders. Based on the Waardenburg criteria, our patient and his six siblings all have Waarenburg syndrome. Conclusions Although the inheritance of Waardenburg syndrome is autosomal dominant, de novo cases of this rare syndrome are mentioned in the medical literature. We report a unique case of seven siblings with Waardenburg syndrome. This case report shows the crucial role of consanguineous parents on this syndrome, and indicates that the number of children with this rare syndrome is increasing.