Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA, USA.
Division of Otolaryngology, Seattle Children's Hospital, Seattle, WA, USA.
Am J Med Genet A. 2021 Dec;185(12):3694-3700. doi: 10.1002/ajmg.a.62430. Epub 2021 Jul 22.
Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality. Retrospective chart review of patients with RS at two high-volume craniofacial centers. 295 patients with RS identified. CP was identified in 97% with iRS, 95% with SS, and 70% of those with SyndRS (p < .0001). U-shaped CP was seen in 86% of iRS, 82% with SS, but only 27% with SyndRS (p < .0001). At one institution, 12 children (6%) with RS died, all from the SyndRS group (p < .0001). All died due to medical comorbidities related to their syndrome. Only 25% of children who died had a U-shaped CP. The most common palatal morphology among those who died was an intact palate. U-shaped CP was most strongly associated with iRS and SS, and with a lower risk of mortality. RS with submucous CP, cleft lip and palate or intact palate was strongly suggestive of an underlying genetic syndrome and higher risk of mortality.
罗宾序列（RS）有许多遗传和非遗传原因，包括孤立性罗宾序列（iRS）、斯提克勒综合征（SS）和其他综合征（SyndRS）。本研究的目的是确定不同病因组之间腭裂的存在和类型是否存在差异。次要终点是确定病因组、腭裂类型和死亡率之间的关系。
对两家颅面中心的 RS 患者进行回顾性图表分析。共确定了 295 名 RS 患者。iRS 患者 CP 的发生率为 97%，SS 患者 CP 的发生率为 95%，SyndRS 患者 CP 的发生率为 70%（p<0.0001）。iRS 患者中 U 形 CP 占 86%，SS 患者中 U 形 CP 占 82%，但 SyndRS 患者中 U 形 CP 仅占 27%（p<0.0001）。在一家机构，12 名（6%）RS 患儿死亡，均来自 SyndRS 组（p<0.0001）。所有患儿均因与其综合征相关的医疗合并症而死亡。所有死亡患儿中只有 25%有 U 形 CP。死亡患儿中最常见的腭形态是完整的腭。U 形 CP 与 iRS 和 SS 最密切相关，且死亡率较低。
伴有黏膜下 CP、唇腭裂或完整腭的 RS 强烈提示存在潜在的遗传综合征，且死亡率较高。
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