Permanent tooth agenesis in non-syndromic Robin sequence and cleft palate: prevalence and patterns

Objectives: Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The study objective was to compare the prevalence and patterns of tooth agenesis in a group of patients with non-syndromic Robin sequence (ns-RS) and a group with non-syndromic cleft palate (ns-CP). Materials and methods: The panoramic radiographs of 115 ns-RS and 191 ns-CP patients were assessed for agenesis of the permanent dentition (excluding third molars) and the patterns recorded using the Tooth Agenesis Code. Results: Partial tooth agenesis was observed in 47.8% of ns-RS and 29.8% of ns-CP patients with a greater prevalence in the mandibula than in the maxilla, particularly in ns-RS. The teeth most frequently absent in both groups were the mandibular second premolars and maxillary lateral incisors. Tooth agenesis was bilateral in two-thirds of affected ns-RS patients and one-half of ns-CP patients. In ns-RS, bilateral agenesis of the mandibular second premolars was more frequently observed in female than that in male patients. Completely symmetrical patterns of hypodontia were found in around 45% of ns-RS patients with tooth agenesis compared to 35% in ns-CP. No association was found between the extent of the palatal cleft and the severity of hypodontia. Conclusion: Tooth agenesis is more prevalent in ns-RS than that in ns-CP, demonstrates a much greater predilection for the mandible in ns-RS, and bears no relation to the extent of the palatal cleft. Clinical relevance: When compared to ns-CP, additional developmental disturbances are likely involved in the etiology of tooth agenesis in ns-RS. Future research could help identify the underlying genetic traits and aid in classifying patients in those with and without expected tooth agenesis in order to facilitate orthodontic management strategies

Compression of the deep branch of the ulnar nerve due to volar dislocation of the fifth carpometacarpal joint

Volar dislocation of the base of the fifth metacarpal bone is an unusual event. When it occurs, damage to the deep branch of the ulnar nerve may be expected because of its close relation to the carpometacarpal joint. A case of neuropathy of the deep ulnar motor branch due to such a dislocation is reported. Mild wasting of the first dorsal interosseous muscle and a severe loss of adduction strength of the thumb was observed 7 weeks after reduction of the dislocation. Complete functional recovery occurred 4 months after the initial injury

Long-term speech outcome in patients with Robin sequence after cleft palate repair and tongue-lip adhesion: A 21-year retrospective analysis

The purpose of this study was to assess the effect of tongue−lip adhesion (TLA) on the long-term speech and articulation outcomes of patients with Robin sequence (RS) after cleft palate repair. Outcomes were compared to those in patients with RS who required positioning alone and to patients with isolated cleft palate (ICP). All consecutive patients with RS (with or without TLA) versus isolated cleft palate (ICP) who underwent cleft palate repair were retrospectively reviewed. Speech and articulation included all assessments between the age of 3–6 years. Secondary speech operations, velopharyngeal insufficiency (VPI), hypernasality, and articulation errors by cleft-type characteristics (CTC), including 4 categories (passive), non-oral, anterior-oral, and posterior-oral. A total of 41 RS patients and 61 ICP patients underwent repair with sufficient follow-up. Of them, 23 patients underwent a TLA at median age of 12 days. Rates of hypernasality (p = 0.004), secondary speech operations (p = 0.004), and posterior oral CTC (p = 0.042) were higher in RS compared to ICP. Isolated RS had speech outcomes similar to those of ICP; however, syndromic RS patients needed more secondary speech operations compared to isolated RS (p = 0.043). TLA-RS patients did not demonstrate differences in speech outcomes or any CTCs (all p > 0.05) compared to non−TLA-RS patients, except for the anterior oral CTC (74% TLA-RS vs 28% non−TLA-RS, p = 0.005). Within the limitations of the study, it seem that TLA does not affect long-term velopharyngeal function in patients with RS. However, TLA-RS patients demonstrated higher rates of anterior-oral CTC, which might be related to a different positioning of the tongue after TLA. Every effort should be taken to treat patients with RS conservatively instead of with TLA because of this demonstrated a negative effect on one type of articulation error. However, if conservative therapy fails, a TLA is still a valuable adjunct in the treatment of RS, and cleft speech pathologists who treat such patients should be more aware of this phenomenon in order to improve long-term articulation outcomes

Assessment of Health-Related Quality of Life in Robin Sequence: A Comparison of Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion

BACKGROUND: Numerous studies have proven the efficacy of mandibular distraction osteogenesis or tongue-lip adhesion in Robin sequence infants with upper airway obstruction. However, none has compared health-related quality of life outcomes. METHODS: In the present retrospective study, Robin sequence infants younger than 1 year, who underwent mandibular distraction osteogenesis or tongue-lip adhesion, were included (2006 to 2016). The infants' caregivers were asked to complete a questionnaire based on the Glasgow Children's Benefit Inventory. RESULTS: The response rate was 71 percent (22 of the 31 questionnaires; mandibular distraction osteogenesis, 12 of 15; and tongue-lip adhesion, 10 of 16) and median age at surgery was 24 days (range, 5 to 131 days). Median total Glasgow Children's Benefit Inventory scores after mandibular distraction osteogenesis and after tongue-lip adhesion were 21.9 (interquartile range, 9.4) and 26.0 (interquartile range, 37.5), respectively (p = 0.716), indicating an overall benefit from both procedures. Positive changes were observed in all subgroups emotion, physical health, learning, and vitality. In syndromic Robin sequence, both procedures demonstrated a lower positive change in health-related quality of life compared with isolated Robin sequence (p = 0.303). CONCLUSIONS: Both surgical procedures demonstrated an overall benefit in health-related quality-of-life outcomes, with no significant differences. The authors' findings contribute to the debate regarding the use of mandibular distraction osteogenesis versus tongue-lip adhesion in the surgical treatment of Robin sequence; however, studies evaluating health-related quality of life in larger Robin sequence cohorts are necessary to identify which procedure is likely to be best in each individual Robin sequence infant. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III

Atypical Outcomes of Nasal and Lip Appearance After Unilateral Cleft Lip Repair: Judgment by Professionals, Patients, and Laypeople

Objective: To gain more insight into the assessment of “atypical” nasal and lip appearance outcomes compared to “typical” appearance outcomes after unilateral cleft lip and palate (UCLP) repair, when judged by professionals, patients with repaired UCLP, and laypeople. Design: An online survey containing 3 series of photographs with various degrees of “typical” and “atypical” nasal and lip appearance outcomes after UCLP repair was sent to 30 professionals, 30 patients with repaired UCLP, and 50 laypeople in 2 countries. Participants were instructed to rank the photographs from excellent to poor based on overall appearance. Mean rank positions of photographs were analyzed and differences in mean rank score between “typical” and “atypical” results were assessed using a T-test. Agreement of ranking between the 3 groups was assessed with an analysis of variance analysis. Setting: Amsterdam UMC, location VUmc, Netherlands and Boston Children’s Hospital, Boston, USA. Patients: Photographs of 6- to 18-year-old patients with repaired UCLP. Results: “Atypical” appearance outcomes were ranked significantly less favorably (small nostril: P = 0.00; low vermillion border: P = 0.02; whistling deformity: P = 0.00) compared to “typical” outcomes. Difference between professionals, patients and laypeople in rank positioning the photographs was not statistically significant (P = 0.89). Conclusions: Noses with a smaller nostril and lips containing a whistling deformity were perceived as poorer outcome compared to the “typical” results. Professionals, patients, and laypeople are in agreement when assessing these outcomes

Will the right Robin patient rise, please? Definitions and criteria during management of Robin sequence patients in the Netherlands and Belgium

Robin Sequence (RS) is characterized by micrognathia and upper airway obstruction (UAO), with or without cleft palate, causing respiratory and feeding problems. Management options are: positioning; nasopharyngeal airway (NPA); tongue-lip adhesion (TLA); mandibular distraction (MDO); and tracheostomy. Controversy exists in literature regarding RS definition and management. Here we describe definitions, management strategies and criteria in opting for management strategies, used by Dutch and Belgian cleft teams. A specifically designed questionnaire was sent to members of all 16 Dutch and Belgian cleft teams. 14 cleft teams returned 35 questionnaires. All used micrognathia as definition criterion, 93.4% cleft palate, 51.5%glossoptosis and 45.7% UAO. Six different RS definitions were used; even within a single team >1 definition was used. All teams used different management strategies: all used positioning, 10 NPA, 6 TLA, 7 MDO, 8 tracheostomy, 5 refer patients with invasive treatment indication. Criteria in opting management modalities were: O2-saturation (89.3%), clinical presentation (86.2%), growth and feeding problems (69.0%), polysomnography (62.1%), and differed within teams. The Dutch and Belgian cleft teams use variable RS definitions, different management modalities and criteria in choosing management strategies. A single, strict definition and evidence-based management guidelines should be formulated for optimal patient car

The Maxillary Nerve Block in Cleft Palate Care:A Review of the Literature and Expert's Opinion on the Preferred Technique of Administration

Introduction: Although the maxillary nerve block (MNB) provides adequate pain relief in cleft palate surgery, it is not routinely used globally, and reported techniques are heterogeneous. This study aims to describe relevant anatomy and to present the preferred technique of MNB administration based on the current literature and the expert opinion of the authors. Method and materials: First, a survey was sent to 432 registrants of the International Cleft Palate Master Course Amsterdam 2023. Second, MEDLINE (PubMed interface) was searched for relevant literature on maxillary artery (MA) anatomy and MNB administration in pediatric patients. Results: Survey response rate was 18% (n=78). Thirty-five respondents (44.9%) used MNB for cleft palate surgery before the course. A suprazygomatic approach with needle reorientation towards the ipsilateral commissure before incision was most frequently reported, mostly without the use of ultrasound. Ten and 20 articles were included on, respectively, MA anatomy and MNB administration. A 47.5% to 69.4% of the MA's run superficial to the lateral pterygoid muscle and 32% to 52.5% medially. The most frequently described technique for MNB administration is the suprazygomatic approach. Reorientation of the needle towards the anterior aspect of the contralateral tragus appears optimal. Needle reorientation angles do not have to be adjusted for age, unlike needle depth. The preferred anesthetics are either ropivacaine or (levo)bupivacaine, with dexmedetomidine as an adjuvant. Conclusion: Described MNB techniques are heterogeneous throughout the literature and among survey respondents and not routinely used. Further research is required comparing different techniques regarding efficacy and safety.</p

Development of the submental nasal appearance scale for the assessment of repaired unilateral complete cleft lip: A pilot study

Objective: To develop the “Submental Nasal Appearance Scale” (SNAS), which is an easy-to-use objectified tool to represent a cleft surgeon’s standard for assessment of the nasal appearance from the submental perspective. Design: Eighty-five photographs of patients with unilateral complete cleft lip and palate were selected and cropped, displaying the submental view. Sixty-one photographs were used to develop 5 sets of reference photographs. Three cleft surgeons graded 24 photographs with these sets and subjectively graded the overall nasal appearance as well. Internal agreement for both methods was calculated, as well as correlation between them. The SNAS was created, by only using the combination of sets that showed the highest reliability and correlation. Setting: Boston Children’s Hospital, Boston, Massachusetts. Patients: Six-to 9-year-old patients with unilateral complete cleft lip and palate. Results: The intrarater and interrater reliability was 0.84 and 0.79, respectively, for the SNAS and 0.76 and 0.62, respectively, for the overall appearance assessment. The correlation was 0.74 between the methods. Conclusions: The SNAS is a reliable tool that reflects a cleft surgeon’s standard and could be used independently or in combination with existing rating scales using the frontal and/or lateral view, for assessment after cleft lip repair

MRI and Additive Manufacturing of Nasal Alar Constructs for Patient-specific Reconstruction

Surgical reconstruction of cartilaginous defects remains a major challenge. In the current study, we aimed to identify an imaging strategy for the development of patient-specific constructs that aid in the reconstruction of nasal deformities. Magnetic Resonance Imaging (MRI) was performed on a human cadaver head to find the optimal MRI sequence for nasal cartilage. This sequence was subsequently used on a volunteer. Images of both were assessed by three independent researchers to determine measurement error and total segmentation time. Three dimensionally (3D) reconstructed alar cartilage was then additively manufactured. Validity was assessed by comparing manually segmented MR images to the gold standard (micro-CT). Manual segmentation allowed delineation of the nasal cartilages. Inter- and intra-observer agreement was acceptable in the cadaver (coefficient of variation 4.6-12.5%), but less in the volunteer (coefficient of variation 0.6-21.9%). Segmentation times did not differ between observers (cadaver P = 0.36; volunteer P = 0.6). The lateral crus of the alar cartilage was consistently identified by all observers, whereas part of the medial crus was consistently missed. This study suggests that MRI is a feasible imaging modality for the development of 3D alar constructs for patient-specific reconstruction