Division of Clinical and Translational Genetics, Dr John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Department of Otolaryngology, Jackson Memorial Hospital, University of Miami, Miami, Florida, USA.
Am J Med Genet A. 2022 Apr;188(4):1307-1310. doi: 10.1002/ajmg.a.62634. Epub 2022 Jan 7.
Auriculocondylar syndrome (ARCND) is characterized by a distinguished feature of question mark ears and a variation of other minor and major malformations. Monoallelic or biallelic PLCB4 variants have been reported in a subset of affected individuals, referred to as ARCND2. We report on a 3-year-old female with ARCND who presented at birth with question mark ears, micrognathia, and bilateral choanal stenosis that was characterized by difficulty in breathing. She was found to be heterozygous for a novel PLCB4 variant, p.Glu358Gly. Respiratory distress is rare in autosomal dominant ARCND2 and choanal stenosis has not been reported. Our study expands the clinical phenotype of ARCND by adding choanal stenosis as a finding and suggests that PLCB4 play a role in the development of choanal structures.
耳-颌综合征（ARCND）的特征是具有问号耳的显著特征，以及其他一些轻微和严重畸形的变化。在一部分受影响的个体中，已经报道了 PLCB4 的单等位基因或双等位基因变异，称为 ARCND2。我们报告了一例 3 岁女性 ARCND 患者，出生时即出现问号耳、小颌畸形和双侧后鼻孔狭窄，表现为呼吸困难。她被发现携带一种新的 PLCB4 变异，p.Glu358Gly，杂合子状态。常染色体显性遗传的 ARCND2 中呼吸窘迫较为罕见，且后鼻孔狭窄尚未报道。我们的研究通过添加后鼻孔狭窄作为一种发现，扩展了 ARCND 的临床表型，并提示 PLCB4 在后鼻孔结构的发育中起作用。
