Associated syndromes in patients with Pierre Robin Sequence
Associated syndromes in patients with Pierre Robin Sequence
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DOI：
10.1016/j.ijporl.2019.109842
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发表时间：
2020-04-01
影响因子：
1.5
通讯作者：
Roby, Brianne Barnett
中科院分区：
文献类型：
--
作者：
Karempelis, Peter;Hagen, Mitchell;Roby, Brianne Barnett
目的：典型的皮埃尔罗宾序列（PRS）是一个三联小颌畸形，舌下垂，气道阻塞，虽然经常与腭裂。目前文献报道Stickler综合征是与PRS相关的最常见综合征，22q11缺失综合征（22q11 DS）是第二常见的综合征。本研究确定了PRS与遗传综合征之间的相关性。方法：进行回顾性图表审查，以确定2007年4月1日至2017年4月1日10年间在三级儿童医院诊断患有PRS的患者。结果：对4，052份连续图表进行了审查，234名患者诊断为PRS，并证实了小颌畸形、舌下垂和气道阻塞三联征。值得注意的是，所有这些患者都有腭裂。在234例PRS患者中，65例患者有综合征诊断（28%）。1例患者有22q11 DS（0.43%），31例患者有Stickler综合征（13.2%）。中枢性低通气综合征3例，Duane综合征3例，科尔内利亚de Lange综合征2例，Emanuel综合征2例，Gordon综合征2例，Mobius综合征2例，Nager综合征2例。多个其他综合征被确定，但发生在孤立cases.Conclusion：这项研究支持的文献，PRS是最常见的Stickler综合征，但很少与22q11 DS，只有1例患者有PRS和22q11 DS。
Objectives: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes.Methods: A retrospective chart review was performed to identify patients diagnosed with PRS over a 10-year period from 4/1/2007 to 4/1/2017 at a tertiary children's hospital.Results: 4,052 consecutive charts were reviewed and 234 patients had a diagnosis of PRS confirmed with the triad of micrognathia, glossoptosis, and airway obstruction. Of note, all of these patients had cleft palate. Of the 234 patients with PRS, 65 patients had syndromic diagnoses (28%). One patient had 22q11 DS (0.43%), and 31 patients had Stickler syndrome (13.2%). Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 patients had Emanuel syndrome, 2 patients had Gordon syndrome, 2 patients had Mobius syndrome, 2 patients had Nager syndrome. Multiple other syndromes were identified, but occurred in isolated cases.Conclusion: This study supports literature that PRS is most commonly associated with Stickler Syndrome but rarely associated with 22q11 DS given that only 1 patient had both PRS and 22q11 DS.