Oliver Jeremie D, Menapace Deanna C, Cofer Shelagh A
Mayo Clinic School of Medicine, Rochester, MN, USA.
Department of Otorhinolaryngology, Mayo Clinic, Rochester, MN, USA.
Int J Pediatr Otorhinolaryngol. 2017 Jul;98:4-8. doi: 10.1016/j.ijporl.2017.04.035. Epub 2017 Apr 24.
Diagnosis of Hartsfield syndrome includes recognition of three distinct clinical anomalies: holoprosencephaly, ectrodactyly, and bilateral cleft-lip and palate syndrome. A family including three male siblings all affected by Hartsfield syndrome presented to our institution for care. An autosomal dominant variant in Fibroblast Growth Factor Receptor 1 (FGFR1) was identified. This report focuses on otorhinolaryngologic manifestationsof Hartsfield syndrome, previously undescribed, including midline defects of holoprosencephaly, bilateral cleft-lip and palate, retrognathia, gastroesophageal reflux disease, external ear anomalies, eustachian tube dysfunction, and midface abnormalities, in addition to multidisciplinary, long-term management strategies. Multidisciplinary management is imperative in the care of these children with modification of approach based on their medical complexity.
前脑无裂畸形、缺指（趾）畸形和双侧唇腭裂综合征。一个有三名男性兄弟姐妹均患哈茨菲尔德综合征的家庭前来我院就诊。在成纤维细胞生长因子受体1（FGFR1）中发现了一种常染色体显性变异。本报告重点关注哈茨菲尔德综合征以前未被描述的耳鼻咽喉科表现，包括前脑无裂畸形的中线缺陷、双侧唇腭裂、下颌后缩、胃食管反流病、外耳异常、咽鼓管功能障碍和面部中部异常，以及多学科长期管理策略。对于这些儿童的护理，多学科管理至关重要，并需根据其病情复杂性调整治疗方法。
