Congenital Upper Lip Sinus.

Congenital upper lip sinus (CULS) is an extremely rare anomaly. The aim of the study is to present a new case and compile the present knowledge of CULS to help foster a deeper understanding of this disease. A 9-year-old girl with a midline CULS, a prolonged maxillary labial frenulum, and a palatal epulis is presented. Thirty-nine papers met the eligibility criteria and 45 cases were included in the systematic review. CULS shows typical clinical and pathologic characteristics. It tends to occur at the midline region horizontally (n=35; 78%) and the upper part of the white lip (n=23; 51%) vertically. No ethnic predilection is found, but it tends to show a female predilection (n=28; 62%). Twenty-six cases (58%) are symptomatic. Thirteen cases (29%) are accompanied by other maxillofacial defects. In all cases, the sinus was lined with stratified squamous epithelium. The etiology remains unknown but 3 theories have been put forward: the fusion theory, the merging theory, and the invagination theory. The authors believe that CULS shows homogeneity with cleft lip to some extent and maybe a microform of it. Primary treatment is surgical excision and the prognosis is favorable, with no complications or recurrence.

Improvement of Aesthetic and Nasal Airway in Patients With Cleft Lip Nasal Deformities: Rhinoplasty With Septal Cartilage Graft and Septoplasty.

OBJECTIVE: To assess the improvement of nasal morphologies and ventilation after septal cartilage graft and septoplasty of patients with unilateral cleft lip and palate (UCLP). DESIGN: Retrospective case-control study. SETTING: Tertiary stomatology hospital. PATIENTS: In total, 118 patients with UCLP who had been diagnosed with a secondary nasal deformity and had reconstructive rhinoplasty and/or septoplasty between 2010 and 2015. MAIN OUTCOME MEASURES: Nasal Obstruction Symptoms Evaluation (NOSE) questionnaire, septum deviated angle, rhinoplasty satisfaction questionnaire, and 3-dimensional photographs. RESULTS: Average follow-up period was approximately 12 months for both groups. NOSE and 3-dimensional computed tomography (3DCT) analysis demonstrated postoperative improvement in nasal airway function of those patients who underwent rhinoplasty and septoplasty simultaneously ( P < .05). Subjective assessment by patients' visual analog scale (VAS) and objective assessment by 3-dimensional stereophotography demonstrated postoperative improvement in nasal morphologies, particularly the columella deviation angle and nasal depth (representing nasal tip height), which are crucial parameters of nasal aesthetics ( P < .05). CONCLUSIONS: In patients who underwent simultaneous rhinoplasty and septoplasty, nasal symmetry and ventilation function were significantly improved compared to the control group. Septum grafts could provide nasal tip support for patients with cleft lip. Three-dimensional stereophotogrammetry helped us to better visualize the surgical results. Although the septal cartilage of Asian patients is sometimes insufficient for simultaneous use for multiple grafts, septum grafts in rhinoplasty of patients with cleft lip nasal deformities could give support for nasal tips.

Anthropometric analysis of the maxillary bone and the alar base in unilateral cleft lip with secondary nasal deformity: classification of a piriform margin bony depression.

OBJECTIVES: This study was conducted to measure the soft tissue of the alar base and the piriform aperture area of the maxillary bone of unilateral cleft lips with secondary nasal deformities when secondary operation are necessary to classify the alar base depression and to provide a clinical reference for the second surgery. METHODS: Twenty-six patients with unilateral cleft lip with secondary nasal deformity were treated at the Department of Oral and Maxillofacial Surgery, School of Stomatology, China Medial University. Nose data were attained preoperatively and postoperatively. Correlations were made between the soft tissue and the bony depression and patient satisfaction with the nasi basis. Classifications were then made based on these data. RESULTS: When the distance discrepancy of the bilateral piriform aperture depression was less than 4.5 mm, we obtained a fine appearance for the nose by repairing only the soft tissues. When it was more than 5 mm, we had to combine repair of the soft tissue with a bone graft or the restitution of the alveolar cleft. When the distance was between 4.5 mm and 5 mm, the surgeon considered both the wishes of the patient and the clinic's standard procedure. CONCLUSIONS: For patients with cleft lips and palates, the bony depression was not the only factor that resulted in postoperative alar depression. Anthropometry of the nose prior to surgery was important for choosing the methods that would yield satisfactory results.

Microarray analysis of two single-nucleotide polymorphisms of transforming growth factor alpha in patients with nonsyndromic cleft of north china.

OBJECTIVE: To investigate the association between the TGFA:c.3851T > C (rs11466285) and TGFA:c.3822G > A (rs3771523) single-nucleotide polymorphisms (SNPs) and nonsyndromic cleft lip and/or cleft palate (CL/P) with microarray in north China. DESIGN AND SETTING: Test association by both case-control and case-parent analysis. SUBJECTS AND METHODS: Two SNPs of 150 controls, 166 cases, and 271 of their parents were genotyped using microarray based on the allele-specific primer extension, and chi-square statistics and family-based association test analyses were performed. RESULTS: Both sequencing and microarray analysis produced identical results. We found significant evidence of overtransmission of the C allele of c.3851T > C and the A allele of c.3822G > A in case-parent trios for CL/P but not for cleft palate only (CP). Significant differences for both genotypic and allelic distributions between cases and controls were found at c.3822G > A and c.3851T > C for CL/P but not for CP. The TGFA [C; G] and [T; A] haplotypes showed significant overtransmission. CONCLUSIONS: These results support that two SNPs are associated with nonsyndromic CL/P but not for CP in northern Chinese populations. It was demonstrated that this microarray is suitable to test SNPs associated with nonsyndromic CL/P.

Down-regulation of Wnt10a by RNA interference inhibits proliferation and promotes apoptosis in mouse embryonic palatal mesenchymal cells through Wnt/Beta-catenin signaling pathway

Cleft palate is one of the most common birth defects. Both environmental and genetic factors are involved in this disorder. Here, we investigated the function of Wnt10a in proliferation and apoptosis of mouse embryonic palatal mesenchymal (MEPM) cells. Expression of Wnt10a was down-regulated at both the mRNA and protein levels in transfected MEPM cells containing Wnt10a-specific small hairpin RNA (shRNA) plasmid. Down-regulation of Wnt10a inhibited cell proliferation and induced cell cycle arrest in the S phase in MEPM cells. Moreover, apoptosis was significantly increased in MEPM cells of Wnt10a gene silencing. Finally, the expression of β-catenin was markedly reduced in MEPM cells transfected with shRNA plasmid, indicating that the canonical Wnt/β-catenin signaling pathway was involved in the alterations of cell proliferation and apoptosis induced by Wnt10a knockdown. Thus, our findings reveal that Wnt10a regulates proliferation and apoptosis of MEPM cells at least partially through the canonical Wnt/β-catenin signaling pathway

TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) are common birth defects with a complex etiology. Multiple interacting loci and possible environmental factors influence the risk of NSCL/P. 12 single nucleotide polymorphisms (SNPs) in 7 candidate genes were tested using an allele-specific primer extension for case-control and case-parent analyses in northeast China in 236 unrelated patients, 185 mothers and 154 fathers, including 128 complete trios, and 400 control individuals. TGFA and IRF6 genes showed a significant association with NSCL/P. In IRF6, statistical evidence of an association between rs2235371 (p = 0.003), rs2013162 (p<0.0001) and NSCL/P was observed in case-control analyses. Family based association tests (FBATs) showed over-transmission of the C allele at the rs2235371 polymorphism (p = 0.007). In TGFA, associations between rs3771494, rs3771523 (G3822A), rs11466285 (T3851C) and NSCL/P were observed in case-control and FBAT analyses. Associations between other genes (BCL3, TGFB3, MTHFR, PVRL1 and SUMO1) and NSCL/P were not detected.

Down-regulation of Wnt10a by RNA interference inhibits proliferation and promotes apoptosis in mouse embryonic palatal mesenchymal cells through Wnt/ß-catenin signaling pathway.

Cleft palate is one of the most common birth defects. Both environmental and genetic factors are involved in this disorder. Here, we investigated the function of Wnt10a in proliferation and apoptosis of mouse embryonic palatal mesenchymal (MEPM) cells. Expression of Wnt10a was down-regulated at both the mRNA and protein levels in transfected MEPM cells containing Wnt10a-specific small hairpin RNA (shRNA) plasmid. Down-regulation of Wnt10a inhibited cell proliferation and induced cell cycle arrest in the S phase in MEPM cells. Moreover, apoptosis was significantly increased in MEPM cells of Wnt10a gene silencing. Finally, the expression of ß-catenin was markedly reduced in MEPM cells transfected with shRNA plasmid, indicating that the canonical Wnt/ß-catenin signaling pathway was involved in the alterations of cell proliferation and apoptosis induced by Wnt10a knockdown. Thus, our findings reveal that Wnt10a regulates proliferation and apoptosis of MEPM cells at least partially through the canonical Wnt/ß-catenin signaling pathway.

[Clinical evaluation of the five-digit numerical recording system for classification of cleft lip and palate deformities].

OBJECTIVE: To evaluate the five-digit numerical recording system (LAPAL system) for classification of cleft lip and palate. METHODS: Fourteen young doctors took part in the study after receiving one-hour instruction twice for the LAPAL system. Photographs of 200 cases of untreated cleft lip and palate were used for the evaluation. The diagnostic codes of the patient were recorded and compared with the teacher's standard diagnosis. The basic criterion of the LAPAL system was that the clefts were arranged in five anatomical components in order of right lip (L), right alveolus and primary palate (A), secondary palate (P), left alveolus and primary palate (A), and left lip (L). The degrees of the cleft severity were recorded with Arabic number 0 for the intact, 1 for the subcutaneous or submucous cleft, 2 for clefts smaller than half of a component, 3 for clefts larger than half of a component, 4 for complete clefts. RESULTS: The rate of the diagnostic coincidence was 88% (2475/2800) totally. The higher coincidence appeared in degree 4 of cleft lip and in degree 4 of cleft alveolar and cleft primary palate as 99% (707/714) and 100% (546/546), respectively. The lower coincidence appeared in degree 2 and degree 3 of clefts of the alveolus and primary palate as 70% (98/140) and 82% (103/126), respectively. Among the 17 types of possible cleft combination, 14 types were found in the present study. CONCLUSIONS: The LAPAL system is easily understood and grasped in a short time. Clefts on the border of adjoin degrees may cause confusion in diagnosis. More training or simplified modification is suggested.

[A modified Onizuka cheiloplasty for repairing the unilateral cleft lip].

OBJECTIVE: To explore the surgical technique of a modified Onizuka cheiloplasty for repairing the unilateral cleft lip. METHODS: 24 patients with unilateral cleft lip were repaired by modified Onizuka cheiloplasty. The rotation flap ended at the midpoint of nasal columella crease. A small triangle skin flap was formed above the vermilion border of the advancement flap. The small triangle flap was inserted to the medial side after the Cupid's bow was built. The skin of the flap C was denuded along the nasal columella crease and the muscle was sutured to the alar base for augmentation of nostril floor on the cleft side. The tip of the advancement flap was sutured at the midpoint of nasal columella crease and the skin of nasal floor was trimmed to hide the incision line around the nasal columella base. RESULTS: It was found that the Cupid's bow was rebuilt in a natural form and the configuration of the upper lip was reconstructed symmetrically. The long term follow up studies showed that the philtrum column was not disturbed by the small triangle flap and the nasal floor was rebuilt without obvious scars. CONCLUSION: The modified Onizuka cheiloplasty is an easy learning technique and efficient for repairing the unilateral cleft lip. This technique can satisfy the patients by reducing the length of scar as well as rebuilding a natural form of upper lip and nostril floor.

[Classification and surgical management of secondary nasal deformity of unilateral cleft lip].

OBJECTIVE: To investigate the classification of alar base depression, so as to provide the reference for the surgical management of secondary nasal deformity of unilateral cleft lip. METHODS: From Jul. 2008 to Feb. 2009, 26 cases with secondary deformity of unilateral cleft lip were treated. All the patients underwent 3-dimensional CT for maxillary measurement. The nasal soft tissue measurement was performed pre- and post-operatively. The relationship between the maxillary and soft tissue at alar base was analyzed. The nasal deformity was classified. RESULTS: The location of alar base was not related to the form of piriform aperture, but the bony defect at the alar base was correlated to the patient satisfactory. The nasal deformity was graded as I when the depression at alar base was less than 4.5 mm in depth, as II when it was 4.5-5.0 mm in depth, and as III when it was more than 5 mm in depth. The deformity could be corrected with only soft tissue plasty for grade I, with soft tissue plasty or artificial implants for grade II, with combined bone autograft or alveolar cleft repair for grade III. CONCLUSIONS: The depression at maxillary does not necessarily result in alar base depression. The alar base can be adjust to proper position through operation. The operation should be designed based on the preoperative nasal measurement.

[One-staged repair of unilateral cleft lip and nasal deformity with modified Mohler].

OBJECTIVE: To study the therapeutic effect of one-staged repair of unilateral cleft lip an nasal deformity with modified Mohler. METHODS: The unilateral cleft lip and nasal deformity were repaired in one stage with modified Mohler. The nasal retainers were kept for at least 6 months. The patients were followed up at 3 months and 12 months after operation. RESULTS: From Sept. 1998 to Aug. 2008, 103 cases, aged from 2.5 m to 12 m, were treated. 3 months after operation, 97 of 103 patients had good appearance of both lips and noses, which included unobvious scars, symmetric Cupid's bows and nostrils, intermedial nasal columellae and eminentia nasal tips. 6 of them had good appearance of noses only with a little malposition of Cupid' s bows. 89 patients were followed up for 12 months with no deterioration of nasal deformity and delayed growth of greater alar cartilages. 3 patients who had malposition of Cupid's bows also got better. CONCLUSIONS: The one-staged repair of unilateral cleft lip and nasal deformity with modified Mohler is very practical.

A simple and precise classification for cleft lip and palate: a five-digit numerical recording system.

OBJECTIVE: Numerous methods have been developed for recording cleft lip and palate deformities, but none has been universally accepted due to limitations, inadequate description of the cleft deformities, and varying complexity. DESIGN: The classification system introduced in this article is designed to describe detailed information of the cleft deformities with five-digit codes. The anatomic description of the cleft components is denoted with five Arabic numerals in order of right lip, right alveolus and primary palate, secondary palate, left alveolus and primary palate, and left lip. The extent of the cleft deformities is recorded using the numerals 0 to 4 (i.e., from intact to complete). SETTING: Department of Oral-Maxillofacial Surgery, The Affiliated Hospital of Stomatology, China Medical University. RESULTS: This new classification system allows a numerical description of any kind of complete cleft, incomplete cleft, asymmetry, and complex clefts with an intervening intact segment (all simulated cases). CONCLUSIONS: The simplicity and precision of this five-digit classification system make it easy to understand, and it can be used for computerized data analysis.

[Entire restoration of deformities caused by naso-orbito-ethmoidal complex and adjacent craniomaxillofacial fracture].

OBJECTIVE: To introduce the therapy of malformation caused by naso-orbito-ethmoidal (NOE) complex and adjacent craniomaxillofacial fracture. METHODS: Seventy-six cases with NOE complex and adjacent craniomaxillofacial fracture underwent surgical replacement and internal fixation, using several cosmetically favorable incisions. At the same time, nasal reconstruction was performed to correct nasal deformities and defect through the coronal access during the exposure for the treatment of the NOE fracture. If larger nasal fragments were present, they were reduced and fixed by microplates or wires. If there was lack of septal support, dorsal nasal bone grafting was used to reestablish the height and anterior projection of the nose. Synthetic material (Medpor) was chosen for restoration of the orbital defects. Transnasal reduction was used for canthopexy. RESULTS: After 3 - 6 months follow-up, the outcomes of these patients were satisfactory functionally and esthetically. Posttraumatic nasal malformation and enophthalmos were corrected in most cases, and residual enophthalmos occurred in 3 cases, diplopia in 2 cases, insufficient prominence in 5 cases which underwent secondary correction with good results. Transnasal reduction of canthal realignment in the type III fracture was also satisfactory. There was no complication in this group. CONCLUSIONS: Comprehensive pre-operative evaluation of the patient and careful examinations should be taken to workout an appropriate operation plan. Simultaneous restoration for this type of complicated fracture is critical to obtain good results.