Cleft Palate-Craniofacial Journal最新文献

Objective: The study evaluated the association of BMP4 tag-SNPs and SNP-SNP interactions involving genes active by BMP4 pathway during craniofacial development in the susceptibility of nonsyndromic orofacial clefts (NSOC) in the Brazilian population.

Design: Case-control study.

Setting: Brazilian Oral Cleft Group.

Participants: The study included 881 healthy controls and 800 patients with different types of NSOC: 232 with cleft lip only (NSCLO), 568 with cleft lip and palate (NSCLP), and 274 with cleft palate only (NSCPO).

Interventions: The genomic DNA was genotyped with allelic discrimination assays for five BMP4 tag-SNPs (rs11623717, rs17563, rs2071047, rs2761887 and rs4898820), and analyzed their allelic and genotypic associations using multiple logistic regression. The interactions of these variants with genes involved in the BMP4 signaling pathway, including FGFR1, GREM1, NOG, VAX1 and the 4p16.2 locus, were explored.

Main outcome measures: BMP4 variants in the NSOC risk.

Results: Although only nominal p values were identified when the whole sample was considered, subgroup analysis including the patients with high African genomic ancestry showed significant associations of rs2761887 with risk for nonsyndromic cleft lip with or without cleft palate (NSCL  ±  P)[(OR_hom: 2.16; 95% CI: 1.21-3.85; p  =  0.01) and (OR_rec: 2.05; 95% CI: 1.21-3.47; p  =  0.006)]. Thirteen significant SNP-SNP interactions involving BMP4 and the SNPs at FGFR1, GREM1, NOG and VAX1 and at locus 4p16.2 for increased risk of NSCL  ±  P were identified.

Conclusions: Our results demonstrate an increased risk of NSCL  ±  P in Brazilian individuals with enrichment of African ancestry in the presence of the BMP4 rs2762887 polymorphism, and reveal relevant genetic contribution of SNP-SNP epistatic interactions involving BMP4 variants to NSCL  ±  P risk.

Objective: To characterize the onset and prevalence of conductive hearing loss (CHL) in pediatric patients with cleft palate (CP) prior to palatoplasty with an enhanced audiologic protocol.

Design: Retrospective cohort study.

Setting: Multidisciplinary cleft and craniofacial clinic at a tertiary care center.

Patients: Patients with CP who received audiologic workup pre-operatively. Patients with bilateral permanent hearing loss, expiration prior to palatoplasty, or no pre-operative data were excluded.

Interventions: Patients with CP born February 2019 to November 2019 who passed newborn hearing screening (NBHS) received audiologic testing at 9 months of age (standard protocol). Patients born December 2019 to September 2020 underwent testing prior to 9 months of age (enhanced protocol).

Main outcome measures: Age of identification of CHL in patients after implementation of the enhanced audiologic protocol.

Results: The number of patients who passed their NBHS in the standard protocol (n = 14, 54%) and the enhanced protocol (n = 25, 66%) did not differ. Infants who passed their NBHS, but demonstrated hearing loss on subsequent audiologic testing did not differ between enhanced (n = 25, 66%) and standard cohort (n = 14, 54%). Of patients who passed NBHS in the enhanced protocol, 48% (n = 12) had CHL identified by 3 months, and 20% (n = 5) by 6 months of age. With the enhanced protocol, patients who did not undergo additional testing post NBHS significantly dropped from 44.9% (n = 22) to 4.2% (n = 2) (P < .0001).

Conclusion: Even with passed NBHS, CHL is still present for infants with CP pre-operatively. Earlier and more frequent testing for this population is recommended.

Lymphatic malformations (LMs) are congenital abnormalities in the development of the lymphatic system. They can damage other structures including the airway, blood vessels, nerves, or bones. LMs of the face can result in malocclusion, and many patients with LMs of the face require orthognathic surgery to correct the malocclusion. Surgery-first is a treatment modality which should be considered for individuals with LMs and is a protocol in which orthognathic surgery is performed prior to orthodontic treatment. This case report describes surgery-first and subsequent orthodontic treatment in a patient with a class III malocclusion due to a large facial LM.

Objective: We have used micro-computed tomography (CT) to elucidate the relationship between the muscle fibers in specimens with cleft palate. These findings could be useful for muscle reconstruction in cleft palate repair and to better understand cleft palate speech.

Design: Cadaveric anatomical study.

Participants: This study included three specimens with cleft palate.

Intervention: The specimens were stained with phosphomolybdic acid and scanned by Micro-CT.

Main outcome measure(s): The anatomy of the muscles.

Results: Using 2D projection images and 3D reconstruction models, subtle anatomical structures could be observed in the muscles. The attachment of the levator veli palatini (LVP) was not at the posterior edge of the hard palate or palatine aponeurosis (PA), but at the anterior 21.71-44.2% of the cleft edge. The palatopharyngeal (PP) was composed of two bundles: inferior and superior heads, which clasped the LVP. The uvularis was unevenly distributed, and located on both sides of the cleft edge, originating at the edge. The palatoglossus, superior constrictor of pharynx and anatomical structure around the pterygoid hamulus, were normal. The PA, PP and LVP were attached to the cleft edge from front to back, in that order. The position of the uvularis was not fixed.

Conclusions: With the help of Micro-CT technology, detailed anatomical features and the relationship between muscles could be visualized. In the specimen with cleft palate, muscles in the soft palate were associated with the pharyngeal muscles, which formed the 3D "velopharyngeal muscles complex." These findings provide anatomical evidence for muscle reconstruction in cleft palate repair.

Objective: This study aimed to gain a better understanding of bullying as victims and aggressors in youths born with unilateral cleft lip and palate (UCLP).

Design: This is an observational study comparing youths with UCLP (ages 8-16) and their parents with a control group (CG) of children in state schools and their parents.

Participants: Forty-one youths (43% female; mean age 12.4 ± 2.3 years) and their parents (n = 40) composed the UCLP group and 56 youths (47% female; mean age 12.4 ± 1.2 years) and their parents (n = 33) were in the CG.

Main outcome measure: The Olweus Bully/Victim questionnaire self- and parent-report was used to assess victims and aggressors involved in bullying behaviors.

Results: About 30% of all youths reported being a frequent victim of bullying at least 2-3 times a month and an additional 32.3% were bullied 1-2 times in the last 2-3 months. For the total sample, parents significantly (P < .05) underestimated any bullying, both as a victim (youths 62.5% vs parents 45.7%) and as an aggressor (youths 53.1% vs parents 37.1%). There were no significant group differences in experiencing any bullying between the youths with UCLP (52.5%) and the CG youths (69.6%) or in its perception by their parents (43.2% and 48.5%, respectively). There were no group differences between the combinations of victim and aggressor.

Conclusions: While there were no differences in bullying prevalence in our sample between youths with UCLP and their peers, this study highlights differences in bullying perceptions between parents and their children.

Objective: This study identifies risk factors for late positional plagiocephaly (PP) diagnosis and impact on helmet therapy.

Design: We conducted a retrospective review of all patients diagnosed with PP over 10 years at five Southern California hospitals.

Setting: Patients diagnosed with PP at an included hospital.

Patients: 25,332 patients were diagnosed with PP over 10 years.

Interventions: Patients diagnosed with PP early (< = 6 months) and late (>6 months) were compared.

Main outcome measures: Cohorts were evaluated for demographics, gestational history, associated conditions, and hospitalizations through direct comparison, logistic regression, and correlation analyses. Rates of referrals and helmet orders were compared.

Results: Of patients reviewed, 4.8% (n  =  1216) were diagnosed late. On multivariate analysis, late diagnoses were more likely Hispanic or Black/African-American. Early gestational age, hydrocephalus, and VP shunt were more frequent in late diagnoses. Patients diagnosed late had longer NICU and overall hospital stays. Earlier gestational age, longer NICU or overall hospital stay correlated with later age at PP diagnosis. 8.9% of patients were referred for helmet therapy evaluation. Patients diagnosed late were 2.63 and 1.64 times as likely to be referred and require helmet therapy, respectively.

Conclusions: Patients who are Hispanic or Black/African-American, premature, have hydrocephalus, or VP shunt have higher rates of delayed PP diagnosis. Shorter gestational age or longer NICU or hospital stay correlates with later diagnosis, which increases helmet therapy requirements. Additional interventions are needed for at risk patients to routinely evaluate for and minimize the risk of developing PP.

Objective: Unilateral lambdoid synostosis (ULS) is characterized by occipital flattening, mastoid bulging, and contralateral parietal bossing. Anterior craniofacial features are less well-defined. This study utilizes volumetric, craniometric, and composite heat maps of three-dimensional (3D) rendered CT scans to analyze anterior craniofacial asymmetry in ULS and compared to controls.

Design: A retrospective review of three-dimensional CT scans.

Setting: Tertiary care pediatric institution.

Patients, participants: 30 ULS and 30 control patients.

Main outcome measure(s): Volumetric and craniometric analysis of the anterior fossa, orbits, zygomas, maxilla, and mandible was performed.

Results: The anterior fossa volume was greater bilaterally (0.047, 0.038), and the fossa angle was more anterior contralaterally (<0.001) and more anterior bilaterally than controls (0.038, 0.033). The orbits had greater height and lesser depth bilaterally compared to controls (0.006, 0.009; < 0.001, < 0.001). Zygoma length was significantly greater on the contralateral side than controls (0.048; < 0.001). Nasal contralateral deviation of 3.57  ±  1.97°. The maxillary length was longer on the contralateral side (0.045). The mandibular angle was more anterior on the ipsilateral side and posterior on the contralateral side (<0.001) compared to controls (0.042, < 0.001). Chin had a contralateral deviation of 1.04  ±  3.74°.

Conclusions: ULS has significant asymmetry in the anterior craniofacial skeleton. There is a bilateral expansion of the anterior cranial fossa with greater frontal bossing on the contralateral side. Increased orbital height and decreased depth. Contralateral zygomatic and mandibular body lengthening with posterior mandibular deviation. These features may provide more effective diagnosis and potential clinical management strategies.

Objective: Surgical treatment of velopharyngeal insufficiency (VPI) includes a wide array of procedures. The purpose of this study was to develop a classification for VPI procedures and to describe variations in how they are performed.Design/participants/setting/outcomes: We completed an in-depth review of the literature to develop a preliminary schema that encompassed existing VPI procedures. Forty-one cleft surgeons from twelve hospitals across the USA and Canada reviewed the schema and either confirmed that it encompassed all VPI procedures they performed or requested additions. Two surgeons then observed the conduct of the procedures by surgeons at each hospital. Standardized reports were completed with each visit to further explore the literature, refine the schema, and delineate the common and unique aspects of each surgeon's technique.

Results: Procedures were divided into three groups: palate-based surgery; pharynx-based surgery; and augmentation. Palate-based operations included straight line mucosal incision with intravelar veloplasty, double-opposing Z-plasty, and palate lengthening with buccal myomucosal flaps. Many surgeons blended maneuvers from these three techniques, so a more descriptive schema was developed classifying the maneuvers employed on the oral mucosa, nasal mucosa, and muscle. Pharynx-based surgery included pharyngeal flap and sphincter pharyngoplasty, with variations in design for each. Augmentation procedures included palate and posterior wall augmentation.

Conclusions: A comprehensive schema for VPI procedures was developed incorporating intentional adaptations in technique. There was substantial variation amongst surgeons in how each procedure was performed. The schema may enable more specific evaluations of surgical outcomes and exploration of the mechanisms through which these procedures improve speech.

Objective: To determine whether performing tonsillectomy at the time of Furlow palatoplasty for the treatment of cleft palate related velopharyngeal insufficiency (VPI) incurs increased surgical complications or compromises speech outcomes.

Design: A retrospective review of patients who had Furlow palatoplasty and the outcomes of surgery in the treatment of cleft palate related VPI.

Setting: A single academic center between January 2015 and January 2022.

Participants: Patients with submucous cleft (SMC) palate or patients with prior straight line primary palatoplasty presenting with VPI.

Interventions: Simultaneous conversion Furlow palatoplasty and tonsillectomy.

Main outcome measure(s): Primary outcome measures include preoperative and postoperative Modified Pittsburgh Weighted Speech Scale (mPWSS), and postoperative surgical complications.

Results: Eight patients (25%) underwent Furlow palatoplasty and concomitant tonsillectomy, while 24 patients (75%) underwent Furlow palatoplasty alone. A significantly lower median postoperative mPWSS score, corresponding to better velopharyngeal function, was reported for patients in the Furlow-tonsillectomy group (0, IQR 0-0) compared to the Furlow only group (1, IQR 0-9, p  =  0.046). No surgical complications were encountered in either group. Five patients (20.8%) in the Furlow only group required subsequent surgery for persistent VPI. No patients in the Furlow-tonsillectomy group required additional surgical treatment for VPI (0%, p  =  0.16).

Conclusions: Tonsillectomy at time of Furlow palatoplasty is utilized in patients with both VPI and baseline tonsillar hypertrophy to lessen the risk of postoperative obstructive breathing. Tonsillectomy performed concurrently with Furlow palatoplasty is safe, without increased risk of surgical complications, and does not compromise post-Furlow palatoplasty speech outcomes.

Cranial sutures are complex structures integrating mechanical forces with osteogenesis which are often affected in craniofacial syndromes. While premature fusion is frequently described, rare pathological widening of cranial sutures is a comparatively understudied phenomenon. This narrative review aims to bring to light the biologically variable underlying causes of widened sutures and persistent fontanelles leading to a common outcome. The authors herein present four syndromes, selected from a literature review, and their identified biological mechanisms in the context of altered suture physiology, exploring the roles of progenitor cell differentiation, extracellular matrix production, mineralization, and bone resorption. This article illustrates the gaps in understanding of complex craniofacial disorders, and the potential for further unification of genetics, cellular biology, and clinical pillars of health science research to improve treatment outcomes for patients.