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

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

In this study, we sought to determine the association between environmental factors and nonsyndromic cleft of the lip and/or palate (NSCLP) to understand the etiology of the disease. A total of 200 NSCLP cases and 327 controls were recruited at the Maternal and Child Health Hospital of Xuzhou City. We conducted face-to-face interviews with the mothers of both cases and controls. The factors increasing the risk of NSCLP were a positive family history [odds ratio (OR)=56.74], pesticide exposure (OR=8.90), and indoor decoration pollution (OR=4.32). On the other hand, the factors decreasing the risk of NSCLP were a high education level (OR=0.22) and supplementation of folic acid (OR=0.23) and multivitamins (OR=0.16). Positive family history, pesticide exposure, and indoor decoration pollution are associated with the risk of NSCLP. In contrast, high education level and folic acid and multivitamin supplementation are protective factors against NSCLP.
Case-Control Studies ; China ; epidemiology ; Cleft Lip ; epidemiology ; etiology ; prevention & control ; Cleft Palate ; epidemiology ; etiology ; prevention & control ; Environmental Pollutants ; toxicity ; Female ; Folic Acid ; administration & dosage ; therapeutic use ; Humans ; Infant, Newborn ; Logistic Models ; Maternal Exposure ; adverse effects ; Pregnancy ; Risk Factors ; Socioeconomic Factors ; Surveys and Questionnaires

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 investigate the biomechanical changes of internal midface distraction after different types of maxillary osteotomy in patients with cleft lip and palate (CLP).

METHODS3-D finite element (FEM) analysis was used. 3-D models of Le Fort I, II, III osteotomy and soft tissue were established. Based on the new pattern of internal midface distractor, the distraction of maxillary complex was simulated to advance 10 mm anteriorly. The mechanical change was studied.

RESULTSThe maxillary complex in CLP were advanced after distraction. Constriction of alveolar crest and palate occurred in Le Fort I osteotomy, but not in Le Fort II and III osteotomy. The maxillary complex was moved anteriorly en bloc after Le Fort III osteotomy, but some degree of rotation of maxillary complex was observed during the distraction after Le Fort I and II osteotomy. In vertical direction, the maxillary complex had more counterclockwise rotation after Le Fort II osteotomy.

CONCLUSION3-D FEM analysis can be used for the study of internal distraction. It can reflect the maxillary movement and provide the theory basis for preoperative design.

Biomechanical Phenomena ; Cleft Lip ; complications ; physiopathology ; surgery ; Cleft Palate ; complications ; physiopathology ; surgery ; Craniofacial Dysostosis ; etiology ; physiopathology ; surgery ; Female ; Finite Element Analysis ; Humans ; Maxilla ; surgery ; Osteogenesis, Distraction ; Osteotomy ; Young Adult

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 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

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

OBJECTIVETo investigate the behaviors of the children suffered from the secondary deformity after the repair of the cleft lip.

METHODSWith the application of the PCPI, eighty patients with the secondary deformity after the repair of the cleft lip were selected in this study and 134 normal children was used for the control.

RESULTSIn the age between 6 and 11 years, there were no significant difference of the behaviors between the children suffered from secondary deformity of cleft lip and the normal children,but in the age from 12 to 16, the children with the deformity showed more behavior problems with the social withdraw and the poor social relationships, compared with the normal children.

CONCLUSIONThe children with the secondary deformity after cleft lip repair in adolescence could have the tendency to suffer from the behavior problems, especially showing the social withdraw and the poor social relationships.

Adolescent ; Adolescent Behavior ; psychology ; Behavior ; physiology ; Child ; Child Behavior ; psychology ; Child, Preschool ; Cleft Lip ; surgery ; Female ; Humans ; Lip ; abnormalities ; surgery ; Male ; Postoperative Complications ; psychology ; Social Behavior Disorders ; etiology ; Surveys and Questionnaires