Agochukwu Nneamaka B, Solomon Benjamin D, Muenke Maximilian
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA; Clinical Research Training Program, National Institutes of Health, Bethesda, MD, USA.
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.
Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2037-47. doi: 10.1016/j.ijporl.2014.09.019. Epub 2014 Sep 28.
This review addresses hearing loss as it occurs and has been reported in Muenke syndrome as well as six additional FGFR related craniosynostosis syndromes (Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, Beare-Stevenson syndrome, Crouzon syndrome with acanthosis nigricans, and Jackson-Weiss syndrome.
Pub-Med, Medline, Cochrane Database, Science Direct, NLM Catalog.
A Medline search was conducted to find all reported cases of the 7 FGFR related syndromic craniosynostosis. Special attention was paid to literature that reported hearing findings and the audiology literature.
Hearing loss occurs in variable percentage as a component part of all FGFR related craniosynostosis syndromes. Our literature review revealed the following incidences of hearing loss in FGFR craniosynostoses: 61% in Muenke syndrome, 80% in Apert Syndrome, 92% in Pfeiffer syndrome, 74% in Crouzon syndrome, 68% in Jackson Weiss syndrome, 4% in Beare Stevenson syndrome and 14% in Crouzon syndrome with Acanthosis Nigricans. The majority of the hearing loss is a conductive hearing loss, with the exception of Muenke syndrome where the majority of patients have a sensorineural hearing loss and Crouzon syndrome where almost half of patients have a pure or component of sensorineural hearing loss.
This manuscript presents a diagnostic and management algorithm for patients with syndromic craniosynostosis. It will aid clinicians in treating these patients and further, the recognition of a possible syndrome in patients with hearing loss who also have syndromic features.
本综述探讨在孟氏综合征以及另外六种与FGFR相关的颅缝早闭综合征（Apert综合征、Pfeiffer综合征、Crouzon综合征、Beare-Stevenson综合征、伴有黑棘皮病的Crouzon综合征和Jackson-Weiss综合征）中出现并已被报道的听力损失情况。
PubMed、Medline、Cochrane数据库、Science Direct、美国国立医学图书馆目录。
进行Medline检索以查找所有已报道的7种与FGFR相关的综合征性颅缝早闭病例。特别关注报告听力检查结果的文献和听力学文献。
听力损失在所有与FGFR相关的颅缝早闭综合征中以不同比例出现。我们的文献综述揭示了FGFR颅缝早闭中听力损失的以下发生率：孟氏综合征为61%，Apert综合征为80%，Pfeiffer综合征为92%，Crouzon综合征为74%，Jackson Weiss综合征为68%，Beare Stevenson综合征为4%，伴有黑棘皮病的Crouzon综合征为14%。除孟氏综合征（大多数患者为感音神经性听力损失）和Crouzon综合征（几乎一半患者有纯感音神经性听力损失或其成分）外，大多数听力损失为传导性听力损失。
本手稿提出了一种针对综合征性颅缝早闭患者的诊断和管理算法。它将有助于临床医生治疗这些患者，并且有助于识别听力损失且具有综合征特征的患者中可能存在的综合征。
