Positioning as a conservative treatment option in infants with micrognathia and/or cleft

Evaluation and management of airway obstruction in prone position were reviewed from studies in infants with micrognathia and/or cleft palate, using polysomnography (PSG) or similar measures, and comparing prone against other positions. Most studies identified were case series from specialist referral centres. Airway obstruction appears more severe on PSG than clinical assessment, but there is no consensus for PSG definitions of mild, moderate or severe airway obstruction. Infants show individual variability in responses to positioning; sleep quality tends to improve when prone, but 22–25% have better respiratory outcomes when supine. Most centres recommend home monitoring if advising that an infant be placed prone to manage their airway obstruction. In conclusion, in case series, success rates for managing infant airway obstruction by prone positioning vary from 12 to 76%. PSG studies comparing prone with other sleep positions can help differentiate which infants show improved airway obstruction and/or sleep quality when positioned prone.     

Association of polysomnographic parameters with clinical symptoms severity grading in Robin sequence patients: a cohort nested cross-sectional study

ObjectivesTo evaluate the association of polysomnographic parameters with clinical symptom severity in Robin sequence (RS) patients.MethodsAll patients diagnosed as presenting with RS at Hospital de Clínicas de Porto Alegre from October 2012 to June 2016 were enrolled. They were classified as isolated RS, RS-plus, and syndromic RS. Polysomnography (PSG) was performed, except for those patients in need of respiratory support. Symptom severity was evaluated as defined by the Cole et al. classification. Ordinal OR (for the chance of increase in one grade on the clinical severity scale) and R² (determination coefficient from ordinal logistic regression) were computed from data analysis.ResultsA total of 80 participants were enrolled in the study. Fifty-five of these were able to undergo polysomnography. Worsening of the studied PSG parameters was associated with increase in clinical severity grading, as follows: desaturation index (OR 1.27; 95% CI; 1.07–1.51; R² = 19.8%; p = 0.006); apnea/hypopnea Index (OR 1.13; 95% CI; 1.01–1.26; R² = 12.5%; p = 0.02); sleep mean oxygen saturation (OR 0.16; 95% CI; 0.05–0.52; R² = 22.6%; p = 0.002); oxygen saturation nadir (OR 0.73; 95% CI; 0.56–0.96; R² = 10.0%; p = 0.02); percentage of time with oxygen saturation <90% (OR 9.49; 95% CI; 1.63–55.31, R² = 37.6%; p = 0.012); and percentage of time presenting with obstruction (OR 2.5; 95% CI; 1.31–4.76; R² = 25.1%; p = 0.006).ConclusionsPolysomnography parameters were associated with severity of clinical manifestations in patients with RS. Oxyhemoglobin saturation-based parameters had surprisingly significant R² values. Therefore, those parameters, which have traditionally been undervalued in other clinical settings, should also be assessed in the polysomnographic evaluation of RS patients.     

Primary aerodigestive presentations of Pierre Robin sequence/complex and predictive factors of airway type and management

Objective

To document the mode and age of primary aerodigestive presentation of Pierre Robin sequence/complex (PRS/C) children to the otolaryngologist and to explore predictive factors of upper airway type and management.

Methods

This is a retrospective cohort study conducted in a tertiary pediatric referral center. A prospective surgical database was searched for children who were diagnosed with PRS/C. Demographics, presenting complaint, secondary diagnoses, type of upper airway obstruction, secondary airway lesions, presence of cleft palate, and airway interventions were collected. Multiple linear regression analysis was performed to predict upper airway obstruction type and intervention.

Results

Seventy-seven potentially eligible patients were identified. Forty-six were included (20 females). Mean age at presentation was 20.4 ± 36.9 months (range 1–191.25 months). Twenty-three primarily presented with respiratory failure, 14 with sleep disordered breathing, and nine with swallowing dysfunction. Children with presentations other than respiratory failure were older (p = 0.004). Nineteen were syndromic. Overt cleft palate was more common in those presenting with respiratory failure (p = 0.01). The type of airway obstruction encountered and use of tracheostomy were positively predicted by the primary presenting feature of respiratory failure (p < 0.05) and male gender (p < 0.05).

Conclusion

A substantial number of PRS/C patients present later than the neonatal period with presentations other than respiratory failure. Both male gender and presentation with respiratory failure predicted a more severe airway obstruction type and the need for trachesotomy.     

Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome

We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Möbius syndrome, but also those described, among others, under names such as aglossia-adactylia syndrome, glosso-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate/lateral synechiae syndrome, and the Charlie M. syndrome. By coding the degree of severity of the limb defects it was possible to compare these cases quantitatively and to determine the nosologic significance of associated cranial nerve palsies and chest abnormalities. We analyzed 7 personal and 62 previously reported cases and found: 1. that the severity in the upper limbs and particularly, malformations of the feet, but not the presence or absence of cranial nerve palsies, is a significant feature in the differentiation of cases, and 2. that the group of patients with cranial nerve palsies includes some with limb defects similar to those in the Hanhart syndrome and others with features which overlap the manifestations of the Poland syndrome. Still other cases had cranial nerve palsy as an isolated trait or as a component manifestation of several different syndromes.These findings permit re-definition and nosologic delimitation of the various syndromes as follows: 1. The Hanhart syndrome: usually severe limb defect of at least one hand or foot, frequently associated with severe oral abnormalities and sometimes also with cranial nerve palsy. Most cases reported as aglossia-adactylia syndrome, aglossia-hypomelia syndrome, and some cases reported as glossopalatine ankylosis, ankyloglossia superior and Möbius syndrome describe instances of the Hanhart syndrome. 2. The Poland-Möbius syndrome: we suggest this term to refer to those cases of Möbius syndrome which have a chest defect and/or symbrachydactyly of the type seen in the Poland syndrome. We suspect that these cases of the Möbius syndrome, and most of the cases which are usually diagnosed as Poland syndrome represent a different spectrum of the same condition, hence the term Poland-Möbius syndrome. 3. The autosomal dominant cleft palate/lateral synechiae syndrome delineated by Fuhrmann et al. and other apparently less frequent conditions are mentioned in the discussion.Cranial nerve palsy obviously occurs in several etiologically distinct conditions. An analogous situation is present, although less obvious, in the Hanhart and the Poland-Möbius syndrome. Both of these conditions are formal genesis malformation syndromes which implies that they are etiologically non-specific developmental field complexes. In the Hanhart syndrome Bersu et al. postulate a common pathogenetic disturbance for oral and limb defects, thus suggesting that the manifestations represent a single anomaly rather a syndrome. This anomaly, for which we suggest the term Kettner anomaly, may occur not only in the Hanhart syndrome but also in other conditions. Similarly, the Poland anomaly, i.e. symbrachydactyly and ipsilateral pectoralis muscle hypoplasia, may occur in the Poland-Möbius syndrome as well as in other conditions.Supported by USPHS/NIH Grant GM 20 130, Paper No. 1893 from the University of Wisconsin Genetics Laboratory.     

小下颌畸形梗阻性睡眠呼吸暂停综合征的整复治疗

我们采用下颌骨颏部截骨前移加植骨术治疗15例小下颌畸形所致的梗阻性睡眠呼吸暂停综合征(Obstructive sleep apnea syndrome 下简称 OSAS)。通过前移下颌骨颏部及附着于截骨块上的颏舌肌,以扩大口腔容积和舌根部的呼吸道,消除了上呼吸道阻塞,治愈了 OSAS 并改善了患者的容貌。     

Assessment of the facial features and chin development of fetuses with use of serial three-dimensional sonography and the mandibular size monogram in a Chinese population

Objective

Our purpose was to evaluate whether the application of serial three-dimensional (3D) sonography and the mandibular size monogram can allow observation of dynamic changes in facial features, as well as chin development in utero.

Study design

The mandibular size monogram has been established through a cross-sectional study involving 183 fetal images. The serial changes of facial features and chin development are assessed in a cohort study involving 40 patients.

Results

The monogram reveals that the Biparietal distance (BPD)/Mandibular body length (MBL) ratio is gradually decreased with the advance of gestational age. The cohort study conducted with serial 3D sonography shows the same tendency. Both the images and the results of paired-samples t test (P<.001) statistical analysis suggest that the fetuses develop wider chins and broader facial features in later weeks.

Conclusions

The serial 3D sonography and mandibular size monogram display disproportionate growth of the fetal head and chin that leads to changes in facial features in late gestation. This fact must be considered when we evaluate fetuses at risk for development of micrognathia.     

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。