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Article

Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

International journal of pediatric otorhinolaryngology - 1 Aug 2023

Rhamati L, Marcolla A, Guerrot A M, Lerosey Y, Goldenberg A, Serey-Gaut M, Rio M, Cormier Daire V, Baujat G, Lyonnet S, Rubinato E, Jonard L, Rondeau S, Rouillon I, Couloignier V, Jacquemont M L, Dupin Deguine D, Moutton S, Vincent M, Isidor B, Ziegler A, Marie J P, Marlin S

Abstract excerpt

OBJECTIVES: Our objective was to reinforce clinical knowledge of hearing impairment in KBG syndrome. KBG syndrome is a rare genetic disorder due to monoallelic pathogenic variations of ANKRD11.The typical phenotype includes facial dysmorphism, costal and spinal malformation and developmental delay. Hearing loss in KBG patients has been reported for many years, but no study has evaluated audiological phenotyping...

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PMID: 37336020
DOI: 10.1016/j.ijporl.2023.111606

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