UNASSIGNED: A chart review and a review of the literature.
UNASSIGNED: We present a family of 4, all of whom possess sensorineural hearing loss due to the same homozygous SLC26A4 variant c.919-2A>G. Intriguingly, clinical manifestations, especially inner ear deformities, displayed variability among family members. Notably, 1 family member exhibited a normal cochleovestibular structure morphology, which was rarely reported in the literature.
UNASSIGNED: This report highlights the significance of genetic testing and familial consultation when a proband exhibits typical Pendred syndrome symptoms. It also underscores that the inner ear morphology can exhibit variability among family members, even with the same homozygous SLC26A4 variant.
■图表回顾和文献回顾。
■我们提出了一个4人的家庭,所有这些人都由于相同的纯合SLC26A4变体c.919-2A>G而患有感觉神经性听力损失。有趣的是,临床表现,尤其是内耳畸形,显示家庭成员之间的变异性。值得注意的是,1个家族成员表现出正常的耳蜗前庭结构形态,这在文献中很少报道。
■本报告强调了先证者表现出典型的Pendred综合征症状时,基因检测和家族咨询的重要性。它还强调了内耳形态可以在家庭成员之间表现出变异性,即使具有相同的纯合SLC26A4变体。