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JAMA Pediatrics Clinical Challenge
March 2018

Lateral Displacement of the Inner Canthi in a Child of Deaf Parents

Author Affiliations
  • 1Department of Medical, Surgical, and Health Sciences, University of Trieste, Trieste, Italy
  • 2Institute for Maternal and Child Health Istituto di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy
JAMA Pediatr. 2018;172(3):294-295. doi:10.1001/jamapediatrics.2017.4372

A young boy and his parents presented for consultation about the child’s risk for development of hearing loss, given a family history of deafness in both parents. Both parents were diagnosed with profound, nonprogressive sensorineural hearing loss within the first year of life. A homozygous mutation in the connexin 26 gene (GJB2 [OMIM 121011]) was found in the mother, whereas the father remained without a causative diagnosis. No other relatives had hearing impairment.