Congenital orofacial cleft, the most common birth defect in the maxillofacial region, exhibits a wide range of prognosis depending on the severity of deformity and underlying etiology. Non-syndromic congenital orofacial clefts typically present with milder deformities and more favorable treatment outcomes, whereas syndromic congenital orofacial clefts often manifest with concomitant organ abnormalities, which pose greater challenges for treatment and result in poorer prognosis. This consensus provides an elaborate classification system for varying degrees of orofacial clefts along with corresponding diagnostic and therapeutic guidelines. Results serve as a crucial resource for families to navigate prenatal screening results or make informed decisions regarding treatment options while also contributing significantly to preventing serious birth defects within the development of population.
Humans ; Cleft Lip/diagnosis* ; Cleft Palate/diagnosis* ; Consensus ; Prenatal Diagnosis ; Female

The prevention, prenatal diagnosis and postnatal treatment of cleft lip and palate form a comprehensive treatment process requiring multidisciplinary participation. Prevention and treatment of cleft lip and palate involve multiple disciplines. The timing of professional intervention often cross and overlap, intervention and the sequence of treatment had a great influence on the outcome of the treatment. In the meantime, under the premise of the change of national fertility policy, the reproductive needs of families with cleft lip and palate, such as fertility intervention and diagnosis etc., should be paid attention to through the whole chain of pre-pregnant, prenatal and post-natal interventions. Therefore, this paper proposes a multidisciplinary treatment process for the comprehensive diagnosis and treatment of cleft lip and palate. It primarily combs and standardizes the discipline composition, data preparation, consultation contents, personnel, time and technical points of the consultation records of the multidisciplinary treatment in antenatal, postnatal, infant, adolescent, adult and reproductive stages of cleft lip and palate.
Adolescent ; Cleft Lip/therapy* ; Cleft Palate/therapy* ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal

OBJECTIVE: To explore the genetic basis for a fetus with cleft lip and palate. METHODS: Copy number variations (CNVs) in the fetus and his parents were detected with chromosomal microarray analysis (CMA). RESULTS: As revealed by the CMA assay, the fetus has carried a 228 kb deletion in Xp11.22 region and a 721 kb duplication in 9p21.1. Both CNVs were inherited from the parents. The CNV in Xp11.22 was predicted to be pathogenic by involving the PHF8 gene, whilst the CNV in 9p21.1 was predicted to be benign. CONCLUSION Deletion of the Xp11.22 region probably underlies the cleft lip and palate in this fetus.
Chromosome Deletion ; Chromosomes, Human, X ; genetics ; Cleft Lip ; diagnosis ; genetics ; Cleft Palate ; diagnosis ; genetics ; DNA Copy Number Variations ; Female ; Fetus ; Histone Demethylases ; Humans ; Microarray Analysis ; methods ; Pregnancy ; Prenatal Diagnosis ; Transcription Factors

PURPOSE: The purpose of this study was to evaluate the feasibility and usefulness of sagittal color Doppler ultrasonography (CDUS) for the diagnosis of fetal cleft lip (CL) and cleft palate (CP). METHODS: We performed targeted ultrasonography on 25 fetuses with CL and CP, taking coronal and axial images of the upper lip and maxillary alveolar arch in each case. The existence of defects in and malalignment of the alveolus on the axial image, hard palate defects on the midsagittal image, and flow-through defects on CDUS taken during fetal breathing or swallowing were assessed. We compared the ultrasonography findings with postnatal findings in all fetuses. RESULTS: Alveolar defects were detected in 16 out of 17 cases with CP and four out of eight cases with CL. Alveolar malalignment and hard palate defects were detected in 11 out of 17 cases and 14 out of 17 cases with CP, respectively, but not detected in any cases with CL. Communicating flow through the palate defect was detected in 11 out of 17 cases of CL with CP. The accuracy of detection in axial scans of an alveolar defect and malalignment was 80% and 76%, respectively. Accuracy of detection of in mid-sagittal images of hard palate defect and flow was 80% and 86%, respectively. The overall diagnostic accuracy of combined axial and sagittal images with sagittal CDUS was 92%. CONCLUSION: Sagittal CDUS of the fetal hard palate is a feasible method to directly reveal hard palate bony defects and flow through defects, which may have additional value in the differential diagnosis of fetal CL and CP.
Cleft Lip* ; Cleft Palate ; Congenital Abnormalities ; Deglutition ; Diagnosis ; Diagnosis, Differential* ; Fetus ; Lip ; Methods ; Palate* ; Palate, Hard ; Respiration ; Ultrasonography ; Ultrasonography, Doppler, Color* ; Ultrasonography, Prenatal

BACKGROUND: The prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P) and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center. METHODS: The multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation. RESULTS: The abortion rate was 28% (3/11). The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91%) reported that they were satisfied with the multidisciplinary management in our center. CONCLUSIONS: Although a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy.
Abortion, Induced ; Child ; Cleft Lip* ; Cleft Palate ; Congenital Abnormalities ; Craniofacial Abnormalities ; Diagnosis ; Female ; Fetus ; Humans ; Infant ; Interdisciplinary Communication ; Mass Screening ; Mothers ; Palate* ; Parents ; Plastics ; Pregnancy ; Pregnant Women ; Prenatal Care* ; Psychiatry ; Ultrasonography

OBJECTIVETo investigate the diagnosis and treatment of hypotelorism.

METHODSFrom Jan. 2000 to Jan. 2014, 6 cases with hypotelorism were retrospectively studied. Among them, 3 cases had craniosynostosis, 2 had holoprosencephaly, and 1 had cleft lip. All the cases were diagnosed and treated by bone graft or spring distraction to correct the hypotelorism.

RESULTS2 cases were treated by none graft and 4 cases were treated by external spring distraction. All the patients completed the treatment successfully with obvious improvement in appearance. No complication happened. 4 cases were followed up for 2 years with an average fronto-orbital axis angle as (50 ± 8) °.

CONCLUSIONSHypotelorism can be successfully corrected by bone graft as fronto-orbital bridge or spring distraction.

Bone Transplantation ; Cleft Lip ; Craniofacial Dysostosis ; diagnosis ; surgery ; Craniosynostoses ; complications ; Humans ; Osteogenesis, Distraction ; Retrospective Studies ; Treatment Outcome

Ultrasonographic examination is widely used for screening of abnormal findings on prenatal screening. Cleft lip with or without cleft palate of the fetus can also be screened by using ultrasonography. Presence of abnormal findings of the fetal lip or palate can be detected by the imaging professionals. However, such findings may not be familiar to oral and maxillofacial surgeons. Oral and maxillofacial surgeons can use ultrasonographic imaging of fetal cleft lip with or without cleft palate to provide information regarding treatment protocols and outcomes to the parent. Therefore, surgeons should also be able to identify the abnormal details from the images, in order to setup proper treatment planning after the birth of the fetus. We report two cases of cleft lip with or without cleft palate that the official readings of prenatal ultrasonography were inconsistent with the actual facial structure identified after birth. Also, critical and practical points in fetal ultrasonographic diagnosis are to be discussed.
Cleft Lip* ; Cleft Palate* ; Clinical Protocols ; Diagnosis* ; Fetus ; Humans ; Lip ; Mass Screening ; Palate ; Parents ; Parturition ; Prenatal Diagnosis ; Reading ; Ultrasonography ; Ultrasonography, Prenatal

OBJECTIVETo explore evaluation strategies for middle ear dysfunction in cleft palate patients, to optimize the diagnosis and treatment of this dysfunction, and ultimately to improve the comprehensive treatment of cleft palate.

METHODSThe relationship among abnormal tympanic types (B, C, and Anomaly), effusion rate, tympanic pressure, and hearing loss were analyzed. We collected relevant information on 469 ears of cleft palate patients and traced one-year longitudinal changes in the tympana of 124 ears from 62 patients with both cleft lip and cleft palate.

RESULTSThe effusion rates of cleft palate patients with type B, type C, and type Anomaly were 50.3% (97/193), 34.8% (8/23), and 20.9% (53/253), respectively. The tympanic pressure of the ears with and without effusion showed no significant difference (P>0.05). The hearing loss in type B cleft palate patients with middle ear effusion was worse than that in patients without effusion (P=0.001). However, the hearing loss in type Anomaly showed no difference (P>0.05). The constituent ratio of each tympanic type remained constant during the period between cheiloplasty and palatoplasty for cleft lip and palate patients (P>0.05).

CONCLUSIONCleft palate patients of all tympanic types may all suffer from middle ear effusion at different rates. Examination by centesis is suggested for ears with abnormal tympanic types. Early aggressive therapy is essential for type B cleft palate patients with middle ear effusion to avoid hearing loss. However, catheterization may be not necessary for type Anomaly patients, and conservative observation should be performed instead. Myringotomy with grommet insertion during palatoplasty does not delay treatment timing for patients with both cleft lip and cleft palateg.

Cleft Lip ; Cleft Palate ; Ear, Middle ; physiology ; Humans ; Middle Ear Ventilation ; Otitis Media with Effusion ; diagnosis ; epidemiology

OBJECTIVETo assess the value of chromosome microarray analysis (CMA) for identifying the etiology of patients with congenital cleft lip and palate.

METHODSTwenty-two patients with no identifiable chromosomal aberrations by conventional cytogenetic technique were selected. DNA was extracted and hybridized with Affymetrix CytoScan(TM) HD arrays following the manufacturer's protocol. The data were analyzed with a CHAS v2.0 software.

RESULTSCMA analysis has identified submicroscopic copy number variants (CNVs) in all of the cases, which have ranged from 100 kb to 1.8 Mb. Potential pathogenic CNVs were identified in 5 patients (22.7%), which involved microdeletions and microduplications on 8p23.1, 10q22.2-q22.3, 6q26, 20p12.1 and 18q12.3. MYST4, MACROD2 and SOX7 genes are likely the causative genes.

CONCLUSIONCMA is an effective method for identification of etiology in patients with cleft lip and palate. CMA should be provided for patients with cleft lip and palate but a normal karyotype. Especially for those with additional structural abnormalities, there is a high risk for submicroscopic chromosomal aberrations.

Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; genetics ; Cleft Lip ; diagnosis ; genetics ; Cleft Palate ; diagnosis ; genetics ; DNA Copy Number Variations ; Female ; Humans ; Infant ; Male ; Microarray Analysis

cleft palate, frontal and temporal bossing, mild ocular hypertelorism, mild mandibular prognathism, vertebral fusion, and so on. A 16-year-old boy visited the Dong-A University Medical Center, requiring diagnosis and treatment of multiple cystic lesions. He presented with many conditions related to NBCCS, including multiple KOTs, bifid rib, cleft lip, frontal bossing, mild ocular hypertelorism, and mild mandibular prognathism. No characteristic cutaneous manifestations (nevoid basal cell carcinoma) were observed in this patient. We report on a case of multiple KOTs associated with NBCCS with a review of the literature.]]>
Academic Medical Centers ; Adolescent ; Basal Cell Nevus Syndrome ; Carcinoma, Basal Cell ; Cleft Lip ; Cleft Palate ; Diagnosis ; Humans ; Hypertelorism ; Jaw ; Macrocephaly ; Male ; Odontogenic Cysts ; Odontogenic Tumors ; Prognathism ; Ribs