China ; Cleft Lip ; etiology ; therapy ; Cleft Palate ; etiology ; therapy ; Humans

Objective To investigate the multiple correspondence of genetic and environmental risk factors with abnormal birth history and provide a scientific basis for improving the birth defects surveillance system and reducing the incidence of birth defects. Methods Data were collected from all the perinatal infants from 28-week-old fetuses to 7-day-old infants born in all the hospitals with obstetrical department in Xi'an from 2003 to 2015. Results A total of 1 236 937 perinatal infants were surveyed,including 10 619 with birth defects.The average incidence rate of birth defects was 0.86% (0.70%-1.15%).Multiple correspondence analysis showed that the women who had had 1 or 2 children with birth defects were associated with the history of spontaneous abortion,family history of birth defects,and history of exposure to toxic and harmful substances.The women who had had 3 or more children with birth defects showed stronger association with family history of birth defects.The birth defects in women with history of spontaneous abortion (257/10 619) was ranked in the order of congenital heart disease,polydactyly,neural tube defects,congenital hydrocephalus,cleft lip with cleft palate,and simple cleft lip.The birth defects in women who had given birth to children with birth defects (135/10 619) followed the order of cleft lip with cleft palate,anencephaly,hydrocephalus,neural tube defects,cleft lip,and talipes equinovarus. Conclusions Abnormal birth history is associated with family history of birth defects and history of exposure to environmental risk factors.Giving birth to three or more children with birth defects is highly correlated with the family history of birth defects.
Child ; Pregnancy ; Female ; Humans ; Cleft Lip/etiology* ; Cleft Palate/complications* ; Reproductive History ; Abortion, Spontaneous ; Neural Tube Defects/epidemiology* ; Risk Factors

Cleft Lip ; complications ; surgery ; Cleft Palate ; complications ; surgery ; Humans ; Jaw Abnormalities ; etiology ; surgery ; Oral Surgical Procedures ; methods ; Osteogenesis, Distraction ; Osteotomy, Le Fort

OBJECTIVE: To analyze clinical and genetic features of a family affected with Van der Woude syndrome. METHODS: The umbilical cord blood of the proband and the peripheral blood of the parents were used for the whole exon sequencing to find the candidate gene.Peripheral blood of 9 members of the family were collected for Sanger sequencing verification, bioinformatics analysis and genotype-phenotype correlation analysis. RESULTS: The proband was diagnosed with cleft lip and palate by ultrasound. His father and grandmother had hollow lower lip and all other family members did not have the similar phenotype. A missense c.263A>G (p.N88S) mutation was found in exon 4 of gene in the proband, his father and his grandmother.The mutation was not found in other family members. CONCLUSIONS A missense c.263A>G (p.N88S) mutation in gene probably underlies the pathogenesis of Van der Woude syndrome in the family and the mutation has been firstly discovered in China.
Abnormalities, Multiple ; genetics ; China ; Cleft Lip ; complications ; diagnostic imaging ; etiology ; genetics ; Cleft Palate ; complications ; diagnostic imaging ; etiology ; genetics ; Cysts ; complications ; genetics ; Female ; Humans ; Interferon Regulatory Factors ; genetics ; Lip ; abnormalities ; Male ; Mutation ; Pedigree ; Ultrasonography

OBJECTIVETo introduce the clinical application of the upper lip scar tissue flap in correcting secondary nasal deformities of unilateral cleft lip.

METHODSTwo types of the upper lip scar tissue flap were developed in correcting nasal deformities with Millard's technique.

RESULTSThe procedure was performed on 51 patients. All the scar tissue flaps survived completely. The deformities were better corrected than before.

CONCLUSIONThe scar tissue flap has adequate blood supply. This procedure is routinely combined with other commonly used techniques to correct secondary deformities of cleft lip. It is particularly applicable for repairing the nasal deformity when usable tissue is not enough.

Child ; Cicatrix ; surgery ; Cleft Lip ; surgery ; Humans ; Nose Deformities, Acquired ; etiology ; surgery ; Rhinoplasty ; methods ; Surgical Flaps ; blood supply ; surgery

OBJECTIVETo investigate the prevalence of dental anomalies in Chinese children with complete unilateral cleft lip and palate (UCLP).

METHODSDental histories and radiographs of 244 Chinese children with UCLP were collected. The diagnosis of dental anomalies was based on panoramic radiographs before alveolar bone grafting. All patients were over 8 years old.

RESULTSIn the UCLP group, 66.8% of the patients was presented with hypodontia. The maxillary lateral incisors were the most common teeth affected, followed by maxillary second premolars, mandibular incisors and mandibular second premolars. A total of 33.6% the patients was presented with dental malformation, most were microdontic laterel incisors. A total of 4.9% the patients was presented with hyperdontia. The supernumerary teeth were more frequently found in the cleft region. The prevalence of missing maxillary lateral incisor in the noncleft side was statistically different between genders, which was higher in male (P < 0.050). This group of Chinese children with UCLP demonstrated significantly higher prevalence of hypodontia, hyperdontia, and malformation on the cleft side than on the noncleft side (P < 0.01).

CONCLUSIONSHypodontia is the most common type of dental anomalies. The prevalence of dental anomalies is higher in the UCLP patients than in the normal population. Dental anomalies occur more frequently on the cleft side than on the noncleft side.

Anodontia ; etiology ; Asian Continental Ancestry Group ; Bicuspid ; abnormalities ; Child ; Cleft Lip ; complications ; Cleft Palate ; complications ; Female ; Humans ; Incisor ; abnormalities ; Male ; Mandible ; Maxilla ; Odontodysplasia ; etiology ; Sex Factors ; Tooth Abnormalities ; etiology ; Tooth, Supernumerary ; etiology

OBJECTIVETo identify the environmental risk factors during the first trimester responsible for nonsyndromic cleft lip with or without cleft palate to collect data for prevention of this congenital defect.

METHODSA hospital-based case-control study was conducted to identify the risk factors by means of field investigation with standardized questionnaires. Single factor analysis and logistic regression of the data are performed using SPSS 13.0 software.

RESULTSMultifactorial analysis revealed that folic acid was significantly associated with lowered incidence of nonsyndromic cleft lip with or without cleft palate (OR=0.100, 95%CI: 0.032-0.312), whereas maternal infection (OR=4.155, 95%CI: 2.166-7.970), poisonous chemical exposure (OR=6.816, 95%CI: 2.528-18.381) and emotional stress (OR=3.250, 95%CI: 1.477-7.154) were risk factors for this defect.

CONCLUSIONSSufficient follic acid intake and prevention of infection and poisonous chemical exposure during the first trimester are measures to reduce the risks of nonsyndromic cleft lip with or without cleft palate.

Case-Control Studies ; Cleft Lip ; epidemiology ; etiology ; prevention & control ; Cleft Palate ; epidemiology ; etiology ; prevention & control ; Female ; Folic Acid ; administration & dosage ; Humans ; Maternal Exposure ; Pregnancy ; Pregnancy Trimester, First ; Risk Factors ; Stress, Psychological

OBJECTIVETo analyze the Millard II technique for correcting secondary deformities of unilateral cleft lip.

METHODSThe Millard II technique was used to correct secondary deformities of unilateral cleft lip in 42 patients from March of 2003 to September of 2004. Dissection was made between the alar cartilage and skin, and the alar cartilage was suspended.

RESULTSThe postoperative follow-ups with 3 approximately 6 months revealed good results of the symmetrical nostrils and philtrums, prolonged columella nasi, good-shaped cupid's bow, and invisible scar.

CONCLUSIONSThe Millard II technique could be an ideal method to correct secondary deformities of unilateral cleft lip. Releasing and suspending alar cartilage spontaneously at the same time can correct nasal deformity adequately.

Adolescent ; Adult ; Child ; Child, Preschool ; Cleft Lip ; etiology ; surgery ; Female ; Humans ; Male ; Nose ; abnormalities ; Nose Deformities, Acquired ; surgery ; Postoperative Complications ; surgery ; Reconstructive Surgical Procedures ; methods ; Young Adult

OBJECTIVETo investigate an effective method for the correction of the narrow nostril secondary to cleft lip.

METHODSA "bird wing shape" incision was made on the nasal tip to form a "W-shape" flap for repairing the nasal deformities secondary to cleft lip, especially for the cases with narrow nostril.

RESULTSTwenty-eight patients were treated with this method. All the cases achieved a symmetry shape of nasal ala, nostril, nasal columella and a normal height of nasal tip except for 2 cases with malformation at nasal tip who achieved improvement after reoperation. 21 cases were followed up for 6-12 months with good cosmetic result and no recurrence.

CONCLUSIONS"W-shape" flap at the nasal tip is an ideal way for the correction of mild to moderate narrow nostril deformity secondary to cleft lip.

Adolescent ; Adult ; Cleft Lip ; surgery ; Female ; Humans ; Male ; Nose ; abnormalities ; surgery ; Nose Deformities, Acquired ; etiology ; surgery ; Rhinoplasty ; methods ; Skin Transplantation ; Surgical Flaps ; Young Adult

OBJECTIVETo restore good occlusion and face profile, the orthognathic operation and orthodontics were used to correct the dento-maxillofacial deformities following the repair of cleft lip and palate.

METHODS21 patients (7 males and 14 females, mean age of 20.6 years) were included in this study. Their dento-maxillofacial deformities following the repair of cleft lip and palate have been corrected in our hospital since 1996. Of them, 17 patients received pre- and postoperative orthodontic treatments. 21 cases underwent the following surgical procedures: Le Fort I osteotomy in 7 cases, multisegmental Le Fort I osteotomy in 5 cases, Le Fort I osteotomy and bilateral sagittal split ramus osteotomy (BSSRO) in 4 cases, Le Fort I osteotomy and mandibular body osteotomy in 2 cases, BSSRO and genioplasty in 2 cases, BSSRO in 1 case. Rigid internal fixation was used in all patients. After multisegmental Le Fort I osteotomy, the rigid fixed palatine splint was used for 6 approximately 8 weeks.

RESULTSOsteotomy segments healed well in all cases without severe complications. 14 patients were followed-up for an average of 25.6 months. There was no evident relapse. 12 patients who received pre- and postoperative orthodontic treatments had satisfactory occlusion and face profile.

CONCLUSIONSOrthognathic operation combined with orthodontics can be used satisfactorily to correct the dento-maxillofacial deformities following cleft lip and palate repair.

Adolescent ; Adult ; Cleft Lip ; surgery ; Cleft Palate ; surgery ; Female ; Follow-Up Studies ; Humans ; Male ; Maxillofacial Abnormalities ; etiology ; surgery ; Orthodontics, Corrective ; Orthognathic Surgical Procedures ; methods ; Osteotomy ; Postoperative Complications ; surgery ; Young Adult