OBJECTIVES: The long-term effect of muscular force balance reconstruction technique combined with intranasal fixation for correcting secondary nasolabial deformity after unilateral cleft lip was evaluated. The aim was to provide a basis for further improving the surgical treatment effect of secondary nasolabial deformity of acleft lip. METHODS: A total of 40 patients aged 4-28 years with secondary nasal deformity and unilateral cleft lip were selected as research subjects. The two-dimensional photo measurement analysis method was used in comparing the surgical results before and immediately after the operation (7 d) and 1 year after the operation. RESULTS: Columellar angle, nostril height ratio (NHR), alar rim angle, alar rim angle ratio, and nostril shape (NS) increased dimmediately after the operation, whereas alar base width ratio (ABWR) and nostril width ratio decreased (NHR) immediately after the operation (P<0.01). The ABWR, NHR, and NS immediately after the operation were not significantly different from those 1 year after the operation (P>0.05). CONCLUSIONS Muscular force balance reconstruction technique combined with intranasal fixation is effective in the repair of unilateral secondary nasolabial deformity, and stable results can be obtained 1 year after surgery.
Humans ; Cleft Lip/surgery* ; Nose/abnormalities* ; Rhinoplasty/methods* ; Treatment Outcome

OBJECTIVE: To explore the genetic basis for a fetus with limb abnormality and cardiac malformation. METHODS: Clinical data of a fetus diagnosed at the Shandong Provincial Maternal and Child Health Care Hospital on April 30th, 2021 was collected. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. X-inactivation analysis was carried out for the female members of its family. RESULTS: The fetus was found to have meningoencephalocele, absence of bilateral radii, cleft lip, abnormal great arteries, and single umbilical artery at the gestational age of 11+ weeks. Sequencing revealed that the fetus has harbored a hemizygous c.1162del (p.Y388Tfs*7) variant of the FANCB gene, which was maternally inherited. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and ClinGen, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4). X-inactivation analysis has revealed complete skewed X-inactivation in the pregnant woman and her mother. CONCLUSION The hemizygous c.1162del (p.Y388Tfs*7) variant of the FANCB gene probably underlay the multiple malformations in this fetus.
Female ; Humans ; Pregnancy ; Abnormalities, Multiple ; Cleft Lip ; Fanconi Anemia Complementation Group Proteins ; Fetus ; Gestational Age ; Mothers

Alveolar cleft is one of the key links of cleft lip and palate reconstruction due to its close relationship with tooth and jaw coordination and nasolabial deformity. The alveolar bone graft repairs the hole in the gum ridge and stabilizes the bone arch, providing better support for the base of the nose and new bone for the roots of the developing teeth to grow into. Unfortunately, bone graft failure in the traditional way, even among minor clefts, bony hypoplasia, or absence that affects the nasal base and piriform rim, is common. Two-stage alveolar bone grafting, which has advantages in addressing the underlying skeleton and deficiency, could be an optional surgical procedure for nasal floor reconstruction in adult patients with a broad alveolar cleft.
Humans ; Adult ; Alveolar Bone Grafting/methods* ; Cleft Lip/surgery* ; Cleft Palate/surgery* ; Treatment Outcome ; Nose/abnormalities* ; Bone Transplantation/methods*

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with non-syndromic cleft lip and cleft palate (NSCLP). METHODS: With informed consent obtained, members of the pedigree were subjected to clinical examination and history taking to exclude syndromic cleft lip and palate. One affected member was subjected to whole-exome sequencing and bioinformatics analysis. Candidate variant was verified by Sanger sequencing and co-segregation analysis of her family members and 100 unrelated healthy individuals. RESULTS: Whole-exome sequencing and co-segregation analysis showed that all affected members of this pedigree have carried a heterozygous missense c.253A>G (p.Cys85Arg) variant in exon 4 of the IRF6 gene, which has co-segregated with the phenotype and was not found among the 100 unrelated healthy individuals. CONCLUSION The missense c.253A>G variant in exon 4 of the IRF6 gene probably underlay the NSCLP in this pedigree.
Brain/abnormalities* ; China ; Cleft Lip/genetics* ; Cleft Palate/genetics* ; Female ; Humans ; Interferon Regulatory Factors/genetics* ; Mutation, Missense ; Pedigree ; Whole Exome Sequencing

OBJECTIVE: Clinical examination and molecular genetic analysis were carried out for one case with special facial features with developmental retardation, hearing impairment and cleft lip and palate. METHODS: The intelligence test, hearing test, and MRI test were performed. At the same time, the blood were collected to detect the copy number variation of the whole genome with the chromosomal karyotype analysis and the chromosomal microarray analysis (CMA). And the whole exome sequencing (WES) was used to analyze the pathogenic variant. RESULTS: The children had mild mental retardation and the IQ was 61. There was moderate hearing loss in both ears(left ear 60 dB, right ear 65 dB). And bilateral horizontal hypoplasia of semicircular canal was found by cranial MRI test. No copy number abnormality was found by chromosome karyotype analysis and chromosome microarray analysis in peripheral blood. And whole exome sequencing suggested that there was heterozygous pathogenic variants in KMT2D gene (p.Leu545Argfs*385). CONCLUSION The patient has a peculiar face and multiple system defects, and was diagnosed as Niikawa-Kuroki syndrome type I by KMT2D gene variant. The whole exome sequencing is helpful for the diagnosis of complex genetic diseases.
Abnormalities, Multiple ; Child ; Cleft Lip ; Cleft Palate ; DNA Copy Number Variations ; Face/abnormalities* ; Hematologic Diseases ; Humans ; Vestibular Diseases

BACKGROUND: Systemic and local factors may lead to disruption of craniofacial growth and development, causing an imbalance between the orofacial skeleton, muscle and soft tissue, dental occlusion, and the dental arch during growth periods. We aimed to reveal whether the prevalence of incompetent lip seal (ILS) varies with age and region, as well as to clarify the factors related to an ILS, in a national, large-scale epidemiological study. METHODS: We surveyed 3399 children, from 3 to 12 years of age, visiting 66 pediatric dental clinics throughout Japan. For this survey, we employed a questionnaire consisting of 44 questions regarding daily health conditions and lifestyle habits. We evaluated the differences in ILS prevalence by age and region (using a Cochran-Armitage test for trend and a Kruskal-Wallis test), and the relationship between ILS and factors investigated in the questionnaire (using Spearman's rank correlation coefficient). RESULTS: We observed that 30.7% of Japanese children exhibited an ILS and that the ILS rate increased with age (p < 0.001). There were no regional differences in the rate of ILS in Japanese children (p = 0.506). We revealed that 12 of 44 survey items exhibited a statistically significant correlation with ILS (p < 0.001), using Spearman's rank correlation coefficient. These items involved orofacial morphology, mouth breathing, and possibly, allergic rhinitis. CONCLUSION The rate of ILS seems to increase with age in children, throughout Japan. Therefore, this disorder may not self-correct during the growth periods in these children. Guidelines are required for pediatric dentists to recognize ILS among children aged 3-12 years.
Child ; Child, Preschool ; Cross-Sectional Studies ; Female ; Humans ; Japan/epidemiology* ; Lip/abnormalities* ; Male ; Prevalence

Objective: To present the case of a midline Tessier 30 cleft in a baby boy who initially underwent a glossoplasty, cheiloplasty and mentoplasty. Methods: Design: Case Report. Setting: Tertiary Government Training Hospital. Patient: One. Result: A 4-month-old boy with a complete midline cleft of the lower lip, alveolus and mandible, and bifid distal tongue that was fused with the floor of the mouth, underwent glossoplasty, cheiloplasty and mentoplasty with subsequent excellent aesthetic outcome and normal oral competency. Conclusion Tessier 30 is a rare congenital midline mandibular cleft. Prompt glossoplasty, cheiloplasty and mentoplasty can correct the gross deformity, restore oral competency, and address functional needs such as feeding, swallowing and early speech development. Future bony repair will hopefully complete the reconstruction.
Mandible ; Cleft Lip ; Tongue Diseases ; Jaw Abnormalities ; Plastic Surgery Procedures

BACKGROUND: The mental V-Y advancement flap method is useful for reconstruction of lower lip defect because of its many advantages. However, it is not easy to select the optimal reconstructive method for the vermilion defect that remains after application of the mental V-Y advancement flap. In choosing the representative surgical method for vermilion mucosal reconstruction including mucosal V-Y advancement flap, buccal mucosal flap, and buccal mucosal graft. We describe an efficient technique to large lower lip defects combining mental V-Y advancement flap and buccal mucosal graft METHODS: This study included 16 patients who underwent reconstructive surgery for full-thickness and large defect (> half the entire width) of the lower lip from October 2006 to September 2017. The operation was conducted using mental V-Y advancement flap with various vermilion mucosal reconstruction methods considering the location of the defect and the amount of residual tissue of the lip coloboma after excision. RESULTS: All patients underwent mental V-Y advancement flap. In vermilion mucosal reconstruction, five patients underwent mucosal V-Y advancement flap, three underwent buccal mucosal flap, and eight underwent buccal mucosal graft. There were good aesthetic and functional results in all patients who underwent buccal mucosal graft. However, two patients who underwent mucosal V-Y advancement flap complained of oral incompetence, and all patients who underwent buccal mucosal flap had oral commissure deformity. CONCLUSION: Buccal mucosal graft combined with mental V-Y advancement flap can produce suitable functional and aesthetic outcomes in near total lower lip reconstruction in patient with large mucosal defect including vermilion portion.
Coloboma ; Congenital Abnormalities ; Humans ; Lip ; Methods ; Mouth Mucosa ; Surgical Flaps ; Transplants

Congenital hypoplasia of the depressor anguli oris muscle is a rare cause of asymmetrical crying facies in newborns. The clinical manifestations range from mild to severe asymmetry and may persist up to adulthood. In the current case, the patient did not exhibit other congenital anomalies or paralysis of other branches of the facial nerve. This adult patient presented with severe asymmetrical lower lip deformity during full mouth opening since birth. A chromosomal study for the detection of 22q gene deletion yielded negative results. The electromyography findings of the lower lip were insignificant. Depressor labii inferioris muscle resection was not effective, but bidirectional (horizontal and vertical) fascia lata grafting improved the aesthetic appearance of the asymmetrical lower lip. The patient showed improved lower lip symmetry during full mouth opening at 1 year after the surgery. Therefore, the details of this rare case are reported herein.
Adult ; Congenital Abnormalities ; Crying ; Electromyography ; Facial Nerve ; Facies ; Fascia Lata ; Gene Deletion ; Humans ; Infant, Newborn ; Lip ; Mouth ; Paralysis ; Parturition ; Transplants

Craniofacial cleft is a rare disease, and has multiple variations with a wide spectrum of severity. Among several classification systems of craniofacial clefts, the Tessier classification is the most widely used because of its simplicity and treatment-oriented approach. We report the case of a Tessier number 3 cleft with wide soft tissue and skeletal defect that resulted in direct communication among the orbital, maxillary sinus, nasal, and oral cavities. We performed soft tissue reconstruction using the straight-line advanced release technique that was devised for unilateral cleft lip repair. The extension of the lateral mucosal and medial mucosal flaps, the turn over flap from the outward turning lower eyelid, and wide dissection around the orbicularis oris muscle enabled successful soft tissue reconstruction without complications. Through this case, we have proved that the straight-line advanced release technique can be applied to severe craniofacial cleft repair as well as unilateral cleft lip repair.
Classification ; Cleft Lip ; Cleft Palate ; Congenital Abnormalities ; Craniofacial Abnormalities ; Eyelids ; Maxillary Sinus ; Orbit ; Rare Diseases ; Reconstructive Surgical Procedures