婴幼儿小下颌畸形伴阻塞性睡眠呼吸暂停综合征的CT征象

目的 探讨婴幼儿小下颌畸形伴阻塞性睡眠呼吸暂停综合征（0SAS）的CT征象。方法 对42例小下颌伴OSAS的患儿（小下颌组）进行CT检查。同期选取26例下颌骨发育正常但因其他疾病接受颈、颌面部CT检查的患儿作为对照组。测量下颌骨左右径（A线）、前后径（B线）和下颌骨体夹角（α°）,计算A线/B线比值;分别测量上气道腭咽区、舌咽区及喉咽区最狭窄处横截面积（CSA,CSA_腭、CSA_舌、CSA_喉）、矢状径（AP,AP_腭、AP_舌、AP_喉）和横径（LR,LR_腭、LR_舌、LR_喉）。并对各测量值进行比较分析。结果 与对照组比较,小下颌组下颌骨B线缩短,A线/B线比值、α°增大,CSA_舌、AP_舌减小,LR_舌增大,差异均有统计学意义（P均<0.05）。小下颌组的CSA_舌与A线、B线均呈正相关（r=0.30、0.41,P均<0.05）,与A线/B线比值、α°均呈负相关（r=-0.36、-0.41,P均<0.05）;CSA_喉与A线呈正相关（r=0.34,P<0.05）。结论 小下颌畸形伴OSAS患儿同时存在下颌骨短小后缩和上气道的狭窄,颌面部CT表现具有一定特征性,对早期诊断具有提示作用。     

Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation,sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes

The split hand/split foot malformation (SHFM) or ectrodactyly is a rare congenital heterogeneous limb developmental disorder with at least 6 associated loci. It is characterized by absence of central rays of hands and feet and fusion of remaining digits. It can present as an isolated malformation or in combination with additional anomalies (non-syndromic or syndromic ectrodactyly). This is a report of a 4 year old male child with SHFM with facial dysmorphism, profound sensorineural hearing loss, microcephaly and developmental delay associated with a large deletion of 7.242 MB on chromosome 7q21.2-q22.1. This is the region of SHFM1 (OMIM No. 183600) and deletions of varying sizes have been reported. We have reviewed the phenotypes and genotypes of this locus. The deletions with this severe phenotype are large and some of them detected on traditional karyotyping. The cases with submicroscopic deletions are few but show some correlation of genotype with phenotype which will help in counseling the families with prenatally or neonatally detected deletion at this locus.     

小下颌畸形患儿下颌神经管CT解剖特征

目的 探讨小下颌畸形患儿下颌神经管的CT解剖特征.方法 在36例小下颌畸形患儿下颌骨冠状位CT图像上,分区测量下颌神经管内缘与下颌骨舌侧骨壁（舌侧指数）、外缘与颊侧骨壁（颊侧指数）、下缘与下颌骨下缘（下缘指数）间的距离.结果 第2前磨牙下颌神经管舌侧、颊侧和下缘的骨壁厚度指数为（4.71±1.25）、（2.77±1.02）、（2.92±0.83）mm,第1磨牙区为（2.64±0.99）、（4.33±1.12）、（2.38±0.72）mm,第2磨牙区为（2.44±0.76）、（4.20±0.89）、（3.38±1.31） mm,以上指数左、右侧比较差异均无统计学意义.在下颌第2前磨牙区至第2磨牙区,神经管偏舌侧走行68侧（94.4％）,偏颊侧4侧（5.6％）;颏孔开口于第2前磨牙区17侧（23.7％）,开口于第1前磨牙区与第2前磨牙间55侧（76.3％）;下颌神经管分支2侧（2.8％）.结论 小下颌畸形患儿下颌神经管大体走向为起于下颌孔,偏舌侧和下颌骨下缘走行,止于颏孔;存在下颌管分支、走行偏颊侧、颏孔后移等变异,应引起手术医师注意.     

Efficacy of I- gel™ for airway management of neonates with Pierre Robin sequence undergoing glossopexy: A prospective study

This paper aims to review the utility of I- gel as a successful airway management device for infants with Pierre robin sequence (PRS) undergoing glossopexy. A prospective study was conducted on PRS neonates. The algorithm followed was putting a ‘Tongue traction stitch’ followed by the following sequence – two trials with direct laryngoscope intubation, two attempts with fiberoptic endoscope intubation followed by insertion of I-gel? to manage difficult airway during glossopexy procedure. 6 patients were intubated with direct laryngoscope, 12 patients were intubated with fibreoptic endoscope and the rest 13 patients were intubated using I-gel?. Successful management of difficult airway was achieved with this airway management protocol during glossopexy and nil postoperative complications were encountered. Within the limitations of the study it seems that, I-gel? is a relevant alternative toprovide a reliable and secure airway access to carry out glossopexy procedure in such patients.     

Retrograde nasal intubation via the cleft in Pierre-Robin Sequence neonates: A case series

Pierre-Robin Sequence, the triad of glossoptosis, micrognathia and cleft palate, provides a challenge in airway management both in and out of the operating room. Transnasal intubation is greatly preferred during its surgical intervention for maximum oral exposure in these very small patients without the added encumbrance of an oral endotracheal tube. From 2001 to 2009, three neonates with Pierre-Robin Sequence who underwent surgery to improve their airway had a novel method of securing a transnasal airway performed in the operating theater. After successful placement of a laryngeal mask airway (LMA) and subsequent endotracheal intubation via the LMA, this technique was used to convert from an oral to a nasal intubation. After the LMA is removed, a smaller endotracheal tube is placed into the nose and out of the mouth via the cleft in each of these patients. This smaller tube is then telescoped into the larger one and secured with suture. Both tubes are subsequently backed out of the nose in a retrograde fashion and disarticulated so that the now transnasal endotracheal tube can be re-connected to the anesthesia circuit. This case series highlights a rapid technique utilizing the patient's congenital defect for securing a transnasal airway alternative to that of transnasal fiberoptic intubation in Pierre-Robin Sequence neonates.     

Polysomnographic results of prone versus supine positioning in micrognathia

BackgroundChildren with micrognathia commonly present with upper airway symptoms and are at risk for developing obstructive sleep apnea (OSA). Prone positioning is widely used as first-line management for micrognathic children with obstructive symptoms. The aim of the present study was to document the effect of positioning on oxygenation and upper airway obstruction as measured by polysomnography (PSG).MethodsThree children with micrognathia from two institutions underwent PSG in both the prone and supine position.ResultsPatient ages were 1 week, 3 months, and 7 months. Supine obstructive apnea–hypopnea indices (oAHI) were severe for all 3 children, with a mean of 21.9 events/hour (range 16.8 to 26.3). In the prone position, the oAHI significantly improved in 2 of 3 children, with a mean of 5.1 events/hour (range 0.3 to 10.3). The frequency of central apnea events increased in 1 child following supine positioning. Nadir oxygen saturation improved in 2 of 3 children and remained within normal limits in the third.ConclusionsThis is the first report of the effect of positioning on changes in PSG indices of micrognathic children. Improvement in obstructive PSG indices occurred with prone positioning, though OSA persisted in 2 of 3 children. The effect of positioning on central apnea was unclear. In light of these findings, we recommend that routine PSG be considered in micrognathic children undergoing prone positioning for definitive therapy of upper airway obstruction.     

三维超声诊断胎儿小下颌畸形的价值

目的 应用三维超声定量检测胎儿下颌骨位置及大小,为产前诊断小下颌畸形提供理论依据。方法 采用经腹三维超声观察且比较188胎20~36孕周正常胎儿(正常组)及7胎小下颌畸形胎儿(异常组)下颌骨发育情况,测量胎儿颜面部角度及下颌骨宽度与上颌骨宽度之比,分析其与孕周的关系,并比较两组测量数据。结果 188胎中,成功测量178胎的全部下颌骨指标。正常胎儿颜面部角度为(62.37±6.23)°,与孕周无相关性(r=0.001,P=0.757),颜面部角度<49.90°诊断为颏后缩;下颌骨宽度与上颌骨宽度之比为0.98±0.09,在观察孕期内无显著变化,下颌骨宽度与上颌骨宽度之比<0.80诊断为下颌骨短小。7胎下颌骨短小且颏后缩,产前超声诊断为小下颌畸形,为产后或尸检结果证实。结论 应用三维超声测量胎儿颜面部角度及下颌骨与上颌骨宽度之比可在产前定量诊断小下颌畸形。     

A clinical narrative review of mandibular distraction osteogenesis in neonates with Pierre Robin sequence

Introduction

Neonatal upper airway obstruction secondary to micrognathia can be managed with conservative or surgical interventions. Traditionally, severe upper airway obstruction was managed with a tracheostomy. Although tracheostomy may be life saving, it is associated with high rates of complications and can lead to developmental problems. More recently, mandibular distraction osteogenesis has been utilized to relieve micrognathia associated airway obstruction.

Methods

A clinical narrative review of the current literature was performed to evaluate the efficacy of mandibular distraction osteogenesis in neonates with Pierre Robin sequence.

Objectives

(1) To evaluate whether mandibular distraction osteogenesis can relieve the upper airway obstruction in micrognathic neonates and (2) to discuss and increase the awareness of various issues surrounding neonatal mandibular distraction procedures including preoperative workup, distraction protocols, and complications.

Results

Mandibular distraction osteogenesis can be a safe and effective intervention in neonates diagnosed with Pierre Robin sequence with severe micrognathia and airway obstruction. Interestingly, in patients with additional complex syndromes, the airway obstruction was not consistently alleviated.

Conclusion

When conservative measures fail, mandibular distraction osteogenesis should be considered to obviate the need for a tracheostomy in newborns with micrognathia associated upper airway obstruction.