OBJECTIVETo analyze the asymmetry of measurements in facial asymmetry patients with skull positioning posterior-anterior radiographs after orthodontic-orthognathic treatment.

METHODSPosterior-anterior cephalometric radiography and cephalometric analysis were performed in forty-five patients with different degrees of facial asymmetry. A single sample t-test was conducted to compare the asymmetry of measurements before treatment and individual normal occlusion. The measurement and reference values in facial asymmetry patients who underwent orthodontic-orthognathic treatment were summated by analyzing the correlation coefficient. The paired t-test was employed to compare the difference between the two groups before and after the treatment.

RESULTSFourteen measurements were significantly different before the treatment and individual normal occlusion (P < 0.05). Me[X] exhibited a higher correlation index of Ag[X] in forty-five cases. Twenty-eight patients showed the main asymmetry in the mandibular body, whereas fifteen patients in the ramus. Two patients showed the main asymmetry in both mandibular body and ramus. Fifteen measurements were significantly different before and after the treatment (P < 0.05).

CONCLUSIONFacial asymmetry is mainly concentrated in one-third of the surface, primarily manifested in the mandibular body. Orthodontic-orthognathic treatment is preferred when Ag[X] is greater than the minimum reference value of 11.31%, Go[X] is greater than 9.79%, and Me[X] is greater than 5.2 mm.

Abnormalities, Multiple ; Child, Preschool ; Face ; abnormalities ; Hematologic Diseases ; Humans ; Male ; Vestibular Diseases

Kabuki syndrome is characterized by peculiar facial features, developmental delay, and mental retardation. Congenital hepatic abnormalities in Kabuki syndrome patients have been sporadically reported in the literature and consist of extrahepatic biliary atresia, neonatal sclerosing cholangitis, and transient neonatal cholestasis. We report here a case of congenital hepatic fibrosis in a patient with Kabuki syndrome. To our knowledge, only one case of congenital hepatic fibrosis has been reported in the setting of Kabuki syndrome.
Abnormalities, Multiple ; Biliary Atresia ; Cholangitis, Sclerosing ; Cholestasis ; Face ; Fibrosis ; Hematologic Diseases ; Humans ; Intellectual Disability ; Vestibular Diseases

OBJECTIVETo introduce the experience of correcting the congenital ala defect of facial cleft with the method of revolving reposition.

METHODSFive patients were treated with this method. Based on features of the defect, two different operations were employed with the medial crura or the lateral crura of the ala as the revolving pivot.

RESULTSAll the operations obtained good results.

CONCLUSIONThe operation of revolving reposition for congenital ala defect is a simple practical method with satisfactory results.

The maxillofacial skeleton is the basis of the contour of the face. Orthognathic surgery and facial contouring surgery change jaw tissue and affect facial appearance in different manners. Orthognathic surgery is the main method to correct dental and maxillofacial deformities. It changes the shape of the jaw and improves the occlusal relationship by changing the three-dimensional position of the jaw. Facial contouring surgery mainly adopts the method of "bone reduction", which changes the "amount"of the jawbone by cutting a part of the bone tissue to improve the facial appearance, generally without changing oral function. The combined use of orthognathic surgery and facial contouring surgery is becoming increasingly common in clinical practice. This also requires oral and maxillofacial surgeons to have a holistic consideration of the comprehensive correction of maxillofacial bone deformity, and to perform comprehensive analysis of jaw deformities and jaw plastic surgery to achieve the most ideal results. The author's team has been engaged in the clinical work of orthognathic surgery and facial contouring surgery and accumulated rich clinical experience in the comprehensive correction of maxillofacial bone deformity. In this article, the indications, treatment goals, treatment modes, treatment methods, and key points in the surgical operations of comprehensive maxillofacial bone surgery were summarized.
Face/surgery* ; Facial Bones ; Humans ; Maxillofacial Abnormalities ; Orthognathic Surgery ; Orthognathic Surgical Procedures

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A, which encodes a histone demethylase that interacts with MLL2. Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing, we identified a frameshift heterozygous mutation for MLL2: (c.5256_5257delGA;p.Lys1753Alafs*34). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.
Abnormalities, Multiple ; Congenital Abnormalities ; Face ; Hematologic Diseases ; Histones ; Humans ; Intellectual Disability ; Korea ; Rare Diseases ; Vestibular Diseases ; X Chromosome

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

OBJECTIVE: To explore the genetic basis for two Chinese pedigrees affected with Coffin-Siris syndrome (CSS). METHODS: Whole exome sequencing (WES) was carried out for the probands. Candidate variants were verified by Sanger sequencing of the probands and their family members. RESULTS: The two probands were respectively found to harbor a heterozygous c.5467delG (p.Gly1823fs) variant and a heterozygous c.5584delA (p.Lys1862fs) variant of the ARID1B gene, which were both of de novo in origin and unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PS2+PM2). CONCLUSION The c.5467delG (p.Gly1823fs) and c.5545delA (p.Lys1849fs) variants of the ARID1B genes probably underlay the CSS in the two probands. Above results have enabled genetic counselling and prenatal diagnosis for the pedigrees.
Abnormalities, Multiple ; China ; DNA-Binding Proteins/genetics* ; Face/abnormalities* ; Hand Deformities, Congenital ; Humans ; Intellectual Disability ; Micrognathism ; Neck/abnormalities* ; Pedigree ; Transcription Factors/genetics*

OBJECTIVE: To explore the genetic basis for two unrelated patients with global developmental delay and coarse facial features. METHODS: Clinical data and family history of the two pedigrees were collected. Whole exome sequencing and Sanger sequencing were carried out to detect potential variants. RESULTS: The two patients have presented with global developmental delay, coarse facies, muscular hypotonia, congenital heart disease, and pectus excavatum, and were found to harbor two de novo loss-of-function variants of the ARID1B gene, namely c.3586delC (p.Gln1196Serfs*15) and c.4954_4957delACGT (p.Thr1652Glyfs*31). Both variants were unreported previously. CONCLUSION The nonsense variants of the ARID1B gene probably underlay the etiology in these patients. Above finding has enriched the genotypic and phenotypic spectrum of the disease and provided a basis for prenatal diagnosis.
Abnormalities, Multiple ; China ; DNA-Binding Proteins/genetics* ; Face/abnormalities* ; Facies ; Hand Deformities, Congenital/genetics* ; Humans ; Intellectual Disability/genetics* ; Micrognathism/genetics* ; Neck/abnormalities* ; Transcription Factors/genetics*

PURPOSE: Kabuki syndrome is a multiple malformation syndrome that was first reported in Japan. It is characterized by distinctive Kabuki-like facial features, skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. We report two cases of Kabuki syndrome with the surgical intervention and speech evaluation. METHODS: Both patients had velopharyngeal insufficiency and had a superior based pharyngeal flap operation. The preoperative and postoperative speech evaluations were performed by a speech language pathologist. RESULTS: In case 1, hypernasality was reduced in spontaneous speech, and the nasalance scores in syllable repetitions were reduced to be within normal ranges. In case 2, hypernasality in spontaneous speech was reduced from severe level to moderate level and the nasalance scores in syllable repetitions were also reduced to be within normal ranges. CONCLUSION: The goal of this article is to raise awareness among plastic surgeons who may encounter such patients with unique facial features. This study shows that pharyngeal flap operation can successfully correct the velopharyngeal insufficiency in Kabuki syndrome and post operative speech therapy plays a role in reinforcing surgical result.
Abnormalities, Multiple ; Dermatoglyphics ; Face ; Hematologic Diseases ; Humans ; Intellectual Disability ; Japan ; Reference Values ; Speech Therapy ; Velopharyngeal Insufficiency ; Vestibular Diseases