Pierre Robin综合征低龄患者行腭裂修复术围手术期的风险评价

目的 评价Pierre Robin综合征低龄患者施行腭裂修复术围手术期的风险，并探讨控制风险的手段。方法 2001年5月-2004年2月北京大学口腔医学院收治Pierre Robin综合征患者共6例，均由同一名颌面外科医师采用von Langenbeck术式进行腭裂修复，围手术期行血氧监测，术前及术后第4天行多导睡眠仪监测。结果 所有患者均在麻醉插管时出现不同程度的低氧血症，只有1例在术后2h内出现了呼吸困难伴严重的低氧血症。睡眠监测结果显示，患者手术后睡眠呼吸紊乱的程度比术前并无明显加重。结论 低龄PierreRobin综合征患者实施腭裂修复术围手术期的风险主要是严重的低氧血症，经过全面的术前风险评价及严格的风险控制，多数患者在低龄阶段由经验丰富的医师进行腭裂修复手术是安全的。     

皮罗序列征患儿腭裂的改良手术治疗：12例临床分析

目的 探讨治疗皮罗序列征患儿腭裂安全、有效的功能性外科方案。方法 选择12例重度皮罗序列征腭裂患儿,腭裂修复术前,为纠正重度缺氧,均实行下颌骨牵张成骨。采用软腭不后退腭帆提肌重建的改良手术进行腭裂修复。结果 12例患皮罗序列征的腭裂患儿,经软腭不后退提肌重建的改良手术后,随访10~12个月,均获得了腭咽闭合功能恢复又不造成呼吸困难的临床效果。结论 对皮罗序列征的腭裂患儿进行腭裂修复手术,有别于一般的腭裂修复手术,应防止腭瓣后徙引起的呼吸窘迫。     

Fast and early mandibular osteodistraction (FEMOD) in severe Pierre Robin Sequence

Pierre Robin Sequence (PRS) is a congenital abnormality characterized by mandibular hypoplasia, glossoptosis and often secondary palate cleft.It may be an isolated or part of a most complicated syndrome. The genetic syndrome that most frequently co-occurs is Stickler syndrome characterized by skeletal abnormalities, joint pain, congenital myopia and retinal detachment.The authors describe their fast and early mandibular osteodistraction (FEMOD) protocol in severe cases of PRS airway obstruction.     

Weight gain in infants with Pierre Robin sequence

ObjectiveTo determine weight gain during treatment with the modified palatal plate (MPP) in infants with isolated and syndromic Pierre Robin Sequence (PRS) suffering from micrognathia, upper airway obstruction (UAO), and failure to thrive (FTT), the authors conducted a retrospective study of infants treated with the MPP.MethodsThe main outcome measure was infant weight (g) for up to three months after birth. Demographic and outcome data (associated syndromes, comorbidities, presence of cleft lip or palate, intubation attempts, tracheotomy and cleft repair) were collected.Results14 children born January 2010 - December 2019 were included. The majority (86%) of infants showed highly significant weight gain (p < 0.001) within a 3-month period (mean pretreatment weight 3147 g with a SD of 425 g vs mean weight at three months 4435 g with a SD of 635 g). Syndromic PRS was found in 7% of infants. 43% of nonsyndromic PRS patients were found to have other congenital anomalies. Genetic testing showed normal karyotypes in 93% of infants and a microdeletion in 7% of infants. 21% of infants required tracheotomy, but no patients required mandibular distraction (MDO) or tongue-lip adhesion (TLA) to relieve UAO.ConclusionPRS infants treated with the MPP showed highly significant weight gain within a 3-month period and did not require mandibular surgery for early airway management, but faster gain of weight might have implications for strategies to perform surgery at an earlier point in time.     

Pierre Robin sequence: report of two cases

Pierre Robin sequence (PRS) or anomalad, a well-recognized presentation, is the association of the first brachial arch malformation. It presents with a classic triad of micrognathia, glossoptosis, and cleft palate. In a neonate with a complete cleft palate, problems with feeding are commonly encountered. Presented here are two cases with PRS in whom palatal obturators were constructed.     

The genetic basis of the Pierre Robin Sequence.

OBJECTIVE: The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is generally unknown. Some factors are suggestive of a genetic basis for PRS. The purpose of this study was to compare genetic information on PRS available in the literature and in a cytogenetic database to facilitate focused genetic studies of PRS. DESIGN: After searching Medline for "pierre robin and genetics," the Mendelian Cytogenetics Network database for "robin" and "pierre robin," and two reviews from the Human Cytogenetics Database for "cleft palate" and "micrognathia," a comparison of the data and a search in Online Mendelian Inheritance in Man (OMIM) Gene Map was performed to identify relevant candidate genes. RESULTS: The findings revealed consistency to a certain degree to loci 2q24.1-33.3, 4q32-qter, 11q21-23.1, and 17q21-24.3. A search in the OMIM Gene Map provided many candidate genes for PRS in these regions. The GAD67 on 2q31, the PVRL1 on 11q23-q24, and the SOX9 gene on 17q24.3-q25.1 are suggested to be of particular importance. CONCLUSION: Candidate loci and a few potential candidate genes for PRS are proposed from the present study. This may enable researchers to focus their effort in the studies of PRS.     

Predictors of speech outcomes in children with Pierre Robin sequence

Backgound

Pierre Robin sequence (PRS) has worse speech outcomes than isolated cleft palate. We aimed to search for possible associations of phonological outcomes with PRS status (isolated vs syndromic), clinical severity, soft palate muscles deficiency, or surgical procedure.

Impact of early intravelar veloplasty at six months on mandibular growth in patients with Pierre Robin Sequence

Pierre Robin Sequence (PRS) combines mandible microretrognathia, asynchronism of the pharynx and tongue, glossoptosis and, in some cases, cleft palate. Its principal functional consequences are respiratory and feeding problems during the neonatal period.In this study, we focused on the impact of early closure of the cleft at six months on mandibular growth in patients with PRS.We performed a retrospective study of 15 patients followed for PRS and undergoing surgery performed by the same senior surgeon (HB) at our cleft center between 2005 and 2012. These patients underwent early closure of the cleft (at a mean age of 5.87 months) by intravelar veloplasty, as described by Sommerlad.Only one article with exploitable data analyzing facial and mandibular growth in a cephalometric study of children with PRS has been published. The children in this series, constituting the control group for our study, underwent veloplasty between the ages of 12 and 18 months, often accompanied by labioglossoplasty, and the cephalometric study was carried out between the ages of four and seven years. We compared this control group in which surgery was performed at 12–18 months with our series of children undergoing surgery at six months, in a cephalometric study based on teleradiographic profile measurements performed between the ages of four and seven years.We found that early closure of the cleft soft palate yielded results identical to those for the control group in terms of mandibular growth, without the need for labioglossopexy. Finally, early intravelar veloplasty led to early functional improvement in terms of speech and phonation.     

Pierre Robin sequence from orthodontic and surgical perspective

Pierre Robin sequence (PRS) is a triad of micrognathia, glossoptosis, and cleft palate that results in an obstruction of the airway on inspiration and impeding feeding. The tongue of infants with PRS fall back toward the posterior pharyngeal wall (glossoptosis) due to receding chin produced by mandibular micrognathia (small jaw) or retrognathia. This causes a serious condition with potentially severe, life-threatening airway obstruction. If untreated, this problem can lead to exhaustion, cardiac failure, and ultimately death, especially during the early months of life. Actually, in the majority of PRS infants, these symptoms can be managed by placing the infant in the prone position until adequate growth of the jaw occurs. If this type of treatment fails, the infant then should be considered for other conservative therapies or surgical interventions. This paper reviews surgical interventions such as tongue-lip adhesion, mandibular traction, mandibular distraction, tracheotomy and conservative orthodontic approaches, and presents a baby treated successfully with an orthodontic appliance.     

Mandible, tongue, and airway in Pierre Robin sequence: a longitudinal cephalometric study.

The purpose of this retrospective longitudinal cephalometric study was to analyze size, growth, and relations of the mandible, tongue, and airway in the isolated, nonsyndromic Pierre Robin Sequence (PRS) infant. The objective was to understand better the early morphologic changes that occur in these structures. The data were obtained from lateral cephalometric radiographs taken in the first 2 years of life on 17 PRS infants, 26 isolated cleft palate (CP), and 26 normal control (N) infants. Mean values of each variable were compared using a univariate analysis of variance. A multivariate discriminant function analysis (DFA) was also used to characterize group differences. The three groups were distinct throughout the period of study. Differences were greater at the earliest age and the distinction was greater between the PRS and N infants with the CP infant in between, but having more similarity to the PRS infant. Initially, the PRS infant had a shorter tongue and mandibular length, narrower airway, smaller tongue area and the hyoid position was more posterior and inferior as compared to N. The tongue shape and position were specific to the PRS infants. This group distinction diminished with age and resulted from an increased mandibular growth rate in the PRS infant. These findings support the hypothesis of "partial mandibular catch-up growth" in the PRS infant. The increased growth rate in the PRS infant improved the airway dimension, which might be partly responsible for the natural resolution of the respiratory distress. This increased growth rate did not allow for the various structures to reach values equal to normal.     

非综合征唇腭裂患者与骨性Ⅰ类人群的上气道对称性分析研究

目的 对非综合征唇腭裂患者与骨性Ⅰ类人群的上气道对称性进行三维分析对比研究。方法 选择非综合征唇腭裂患者51例(男性37例,女性14例,平均年龄(17.40±5.93)岁)和骨性Ⅰ类人群53例(男39例,女14例,平均年龄(17.40±6.07)岁),拍摄锥形束CT,应用Dolphin 3D 11.9软件进行三维测量分析,采用SPSS 25.0软件包进行独立样本t检验对比两者上气道对称性。结果 单侧唇腭裂患者上气道鼻咽段和腭咽段为不对称结构(P<0.05),其患侧横截面直径小于健侧;而双侧唇腭裂患者及骨性Ⅰ类人群,其上气道鼻咽和腭咽段为基本对称结构(P>0.05)。结论 单侧唇腭裂患者的上气道横截面直径中,有患侧偏向健侧的趋势,应注重其患侧的通气及呼吸情况。     

A prospective, longitudinal study of feeding skills in a cohort of babies with cleft conditions.

OBJECTIVE: To examine the natural history of feeding skills in babies with clefts and identify risk factors and predictors of poor feeding. PARTICIPANTS: Sixty-two babies with clefts were examined at 2 weeks, 3 months, and 14 months of age. MAIN OUTCOME MEASURES: Feeding ability, oral motor function, and feeding efficiency were assessed. Univariate analyses were used to determine whether oral motor function and sequelae varied according to feeding ability or cleft condition. Multivariable logistic regressions were used to determine risk factors for poor feeding. RESULTS: Poor feeding skills were detected in one third of newborns. The prevalence of poor feeding reduced to 19% at 3 months of age and 15% at 14 months of age. Oral motor dysfunction and sequelae (particularly nasal regurgitation) were more commonly observed in babies with poor feeding skills irrespective of comorbidity. The main risk factor for poor feeding was a diagnosis of syndrome or Pierre Robin sequence (PRS). At 2 weeks of age, babies with syndrome or PRS were 15 times more likely to have poor feeding skills than their nonsyndromic counterparts. When syndrome or PRS was controlled for, babies with cleft palate and cleft lip and palate were equally likely to have poor feeding skills. Parental report of feeding efficiency was predictive of poor feeding in young babies. CONCLUSIONS: Poor feeding skills are relatively common in newborns with cleft palate and cleft lip and palate. Treatment for feeding problems may be needed beyond the first year of life, especially for babies born with PRS or a syndrome.     

Acoustic airway profiles in unilateral cleft palate patients.

OBJECTIVE: This study investigates the nasal airway in unilateral cleft palate patients by means of a noninvasive, objective diagnostic method that provides topographic information about the airway profile. DESIGN: A consecutive sample of patients was measured. SETTING: Cleft palate rehabilitation center of the University of Mainz, Germany. PATIENTS: Forty-nine subjects were investigated: 34 full-grown patients with complete unilateral cleft lip and palate and 15 controls with subjective normal nasal patency. INTERVENTION: A transnasal series of three acoustic measurements of nasal volume was performed per nostril; measurements were taken both before and after decongestion with 0.3 mg xylometazoline per nostril. Minimum cross-sectional area, nasal volume, and decongestion capacity were calculated for both the cleft side and the contralateral side and for both nasal sides in controls. RESULTS: Pathologic obstructions (<0.4 cm2) were detected on the cleft side in 75% of patients but were detected in only 15% of patients on the contralateral side (p < .001). The valve area of the cleft side (0.32 +/- 0.2 cm2) yielded significantly (p < .001) lower cross-sectional values compared with the contralateral side (0.56 +/- 0.1 cm2). Total nasal volume was determined to be 35% smaller on the cleft side (p < .001). Significantly higher decongestion capacity was verified on the cleft side, thus indicating mucosal hypertrophy. CONCLUSION: Despite a wide range of interindividual variability, we recognized a characteristic "descending W" airway pattern in cleft palate patients. Acoustic rhinometry seems to be a powerful tool for acquiring topographic information about the individual airway profile. It has proven helpful in visualizing the location and amount of pathologic obstructions, rendering it especially useful for preoperative investigation and quality control in corrective cleft nose surgery.     

Snoring in cleft patients with velopharyngoplasty

Some patients with cleft lip/palate or isolated cleft palate seem to develop snoring as one possible symptom of an obstructive sleep apnoea syndrome after velopharyngoplasty (VPP). The aim of this paper was to determine whether there was a difference in the posterior airway space (PAS) between patients with a VPP who snored and those who did not. Four standard parameters were measured in lateral cephalograms of 20 patients with cleft lip/palate and isolated cleft palate, without diagnosis of further syndromes (e.g. Pierre Robin sequence), having undergone VPP, to examine the dimensions of the PAS. Data were set in correlation to the symptom of snoring, and compared with those of 40 patients without cleft undergoing orthodontic treatment and with 20 patients with cleft lip/palate or isolated cleft palate but not VPP. Metric parameters were significantly different after VPP in patients with clefting and snoring compared to the group of cleft patients without snoring. All patients with clefts exhibited at least in one dimension a constriction when compared to patients without clefting. In conclusion, cleft lip/palate and isolated cleft palate patients tend to have constrictions of the PAS. VPP may induce snoring and further narrowing. Recall and analysis for obstructive sleep apnoea syndrome should be mandatory.     

黏膜下腭裂的形态分类与腭咽功能分析

目的 通过观测黏膜下腭裂患者的多项指标,以了解黏膜下腭裂的解剖形态与腭咽功能,以期提高临床诊断和治疗的准确率。方法对2008-2014年就诊的276例黏膜下腭裂患者的资料进行回顾性研究,对其术前腭咽功能、腭部形态、是否伴发唇裂、就诊原因等因素进行分析,观察各指标与腭咽功能的相关关系。结果276例患者中,术前腭咽闭合完全（VPC）者96例（34.78%）,腭咽闭合不全（VPI）者151例（54.71%）,边缘性腭咽闭合不全（MVPI）者29例（10.51%）。单纯黏膜下腭裂者196例（71.01%）,伴发唇裂者80例（28.99%）,伴发唇裂者较单纯的黏膜下腭裂者有更高的术前VPC率。黏膜下腭裂有不同的形态,完全具备Calnan三联征者仅103例（37.32%）。结论不同类型黏膜下腭裂的构成比和腭咽闭合率不同,需综合考虑各个因素与腭咽功能间的可能关系,谨慎选择治疗方案。     

Airway obstruction following palatoplasty: analysis of 247 consecutive operations.

OBJECTIVE AND METHODS: Between February 1987 and September 1997, 247 patients underwent primary repair of a cleft of the secondary palate by one surgeon, using the double-opposing Z-plasty (Furlow) technique. This retrospective study reviews perioperative and postoperative airway compromise among these patients. The purposes of this study were to identify factors associated with airway obstruction following palatoplasty and to analyze the management of those patients. Although infants experiencing airway problems following Wardill-Kilner and Von Langenbeck palatoplasty have been described, airway complications in a group of Furlow repair patients has not been previously reported. RESULTS: Fourteen patients (5.7%) had airway problems. The average age of these patients was 18 months, which was not significantly different from those without airway problems. Airway obstruction occurred as late as 48 hours after the completion of surgery. Twelve of the 14 patients had severe airway compromise requiring continued postoperative intubation, reintubation, or tracheostomy (one). There were no deaths. Thirteen of the 14 patients with postoperative airway problems (93%) had other congenital anomalies in addition to clefting, a named congenital disorder, or both. Seven of those 13 had Pierre Robin sequence. In contrast, only 40 of the 233 patients without airway problems (17%) had additional congenital anomalies or named disorders. Presence of other congenital anomalies was associated with a significantly increased risk of airway obstruction (p =.005). CONCLUSION: Patients with cleft palate with the Pierre Robin sequence or other additional congenital anomalies had an increased risk of airway problems following palatoplasty. Awareness of this risk permits identifying those patients prior to surgery so that they can be monitored and managed appropriately, minimizing the likelihood of major complications or death.     

Dimensions of the cleft nasal airway in adults: a comparison with subjects without cleft

The prevalence of mouthbreathing among individuals with cleft lip and palate is significantly higher than in the normal population. This has been attributed to nasal deformities that tend to reduce nasal airway size. The purpose of the present study was to determine how a heterogeneous adult group with cleft lip and palate differs in terms of nasal airway cross-sectional area from an adult group without cleft during the inspiratory and expiratory phases of breathing. The pressure-flow technique was used to estimate nasal airway size in 15 adults without cleft (15 years or older) and 37 adults with cleft lip, cleft palate, or both. Mean areas and standard deviations for subjects without cleft were 0.63 cm2 +/- 0.17 during inspiration and 0.56 cm2 +/- 0.14 during expiration. This difference is statistically significant (p less than 0.01). Mean areas and standard deviations for all subjects with cleft were 0.37 cm2 +/- 0.18 during inspiration and 0.40 cm2 +/- 0.20 during expiration. This difference is not statistically significant (p greater than 0.15). Twenty-two of the subjects with cleft had nasal areas considered to be impaired (below 0.40 cm2) as compared with only three of the subjects without cleft. A two factor analysis of variance (ANOVA) demonstrated that area changes during respiration are different for subjects with and without cleft (p less than 0.005), and that cleft nasal areas are smaller than noncleft areas for both phases of breathing (p less than 0.001). Inspiratory-expiratory differences between subjects with and without cleft are probably the result of developmental defects, reparative surgery or both.(ABSTRACT TRUNCATED AT 250 WORDS)     

A preliminary study of nasal airway patency and its potential effect on speech performance.

The relationship between nasal airway size and articulatory performance was studied in a group of cleft palate patients. Articulation analysis revealed that children with bilateral cleft lip and palate were nearly twice as likely to manifest compensatory articulations as children with unilateral cleft lip and palate or with cleft palate only. When subjects were grouped according to speech performance, aerodynamic assessment indicated that children with compensatory articulations had significantly larger nasal cross-sectional areas than children without compensatory articulations. The findings suggest that children with comparatively large nasal airways may be at increased risk for developing abnormal speech patterns. If these findings are confirmed by further research, such children may be candidates for relatively early palate repair.     

大龄腭裂患者术后腭咽闭合功能的影响因素分析

目的 探究大龄腭裂患者一期腭裂整复术后腭咽闭合功能的影响因素。方法 本研究回顾了2009—2014年间在四川大学华西口腔医院唇腭裂外科以Furlow术式行手术治疗的大龄腭裂患者（手术年龄≥5岁）,收集其软腭长度、咽腔深度、腭裂宽度、上颌宽度、腭裂指数和腭咽比6项指标的术中测量数据以及术后至少1年的语音复诊结果,进行logistic回归分析。结果 共纳入患者131人,其中男性70人,女性61人。logistic回归分析发现患者咽腔深度同术后腭咽功能强相关,咽腔深度越大,术后腭咽闭合不全风险升高。咽腔深度大于16 mm的患者术后腭咽闭合功能显著性降低,其他测量指标同术后腭咽功能无明显关联性。结论 大龄腭裂患者咽腔深度是其术后腭咽功能的敏感预测指标。对于咽腔深度大于16 mm的患者,可考虑一期手术时同步实施腭咽联合手术,以创造更好的腭咽闭合条件。     

大龄腭裂患者术后腭咽闭合功能的影响因素分析

目的 探究大龄腭裂患者一期腭裂整复术后腭咽闭合功能的影响因素。方法 本研究回顾了2009—2014年间在四川大学华西口腔医院唇腭裂外科以Furlow术式行手术治疗的大龄腭裂患者（手术年龄≥5岁）,收集其软腭长度、咽腔深度、腭裂宽度、上颌宽度、腭裂指数和腭咽比6项指标的术中测量数据以及术后至少1年的语音复诊结果,进行logistic回归分析。结果 共纳入患者131人,其中男性70人,女性61人。logistic回归分析发现患者咽腔深度同术后腭咽功能强相关,咽腔深度越大,术后腭咽闭合不全风险升高。咽腔深度大于16 mm的患者术后腭咽闭合功能显著性降低,其他测量指标同术后腭咽功能无明显关联性。结论 大龄腭裂患者咽腔深度是其术后腭咽功能的敏感预测指标。对于咽腔深度大于16 mm的患者,可考虑一期手术时同步实施腭咽联合手术,以创造更好的腭咽闭合条件。