Selection of osteotomy line in mandibular distraction osteogenesis for infants and young children / 中华整形外科杂志

Objective@#To explore how to select osteotomy line and its significance in mandibular distraction osteogenesis in infants and young children.@*Methods@#From May 2013 to July 2018, 208 infants and young children with mandibular deformity were admitted to the Department of Oral and Maxillofacial Surgery, Guangzhou Women and Children Medical Center, including 131 males and 77 females, with the age range of 8 days to 4 years, mean age of 6 months. Their clinical records were retrospectively analyzed. There were 162 cases of Robin sequence, 37 cases of the first and branchial arch anomalies, 2 cases of Treacher-Collins syndrome, and 7 cases of other congenital malformations. During the distraction osteogenesis, different osteotomy lines were selected according to the characteristics of the mandibular deformity: (1) For short mandibular body, the straight osteotomy line was used to extend the mandibular body. (2) For short mandibular ramus, a polygonal osteotomy line was used to extend the ramus. (3) For the increased mandibular angle, a curved osteotomy line was used to change the angulation.@*Results@#Linear osteotomy was used in 38 patients, polygonal line osteotomy were used in 129 patients, and curved osteotomy was performed in 41 patients. Among them, 4 patients with linear osteotomy had deciduous embryo injury, 6 patients with linear osteotomy and 2 patients with polygonal osteotomy had open occlusion, and patients with curved osteotomy did not have tooth and mandible damage, or malocclusion. All patients were followed up for 3 months to 5 years. The average follow-up time was 6.2 months. All osteotomy healed well, without osteonecrosis or nonunion.@*Conclusions@#For the mandibular distraction osteogenesis, osteotomy line could be individualized, according to the characteristics of mandibular deformity of infants and young children, which can reduce complications such as dental damage and open occlusion.

Chromosome microarray analysis of patients with 18q deletion syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the correlation between the genotype and phenotype of 18q deletion syndrome with chromosome microarray analysis (CMA).</p><p><b>METHODS</b>Eight cases with 18q deletion syndrome were selected, including two affected fetuses and six children patients. DNA was extracted and hybridized with Affymetrix CytoScan TM 750K arrays following the manufacturer's standard protocol. The data was analyzed with a special software package.</p><p><b>RESULTS</b>CMA analysis identified pathogenic copy number variations (CNVs) on 18q in all cases, which ranged from 6.612 Mb to 22.973 Mb. NFATC1, GALR1, MBP, SALL3 and TSHZ1 are likely to be causative genes for congenital heart disease, psychological, growth retardation, and cleft palate.</p><p><b>CONCLUSION</b>CMA can precisely locate the breakpoints of 18q and facilitate definition of the genotype-phenotype correlations, which is useful for prognosis.</p>

Pathogenetic characteristics of non-syndromic cleft lip with or without cleft palate: clinical analyses of 1435 patients / 中华医学美学美容杂志

Objective To investigate the characteristics of patients with non-syndromic cleft lip with or without cleft palate (NSCL/P),and to provide the basis for the treatment.Methods 1435 cases of NSCL/P were collected from January 2012 to December 2014.Characteristics of the gender,type and side,blood type,associated malformation,genetic history of the patients were analyzed retrospectively.Results In the 1435 cases,397 cases (27.67％) presented with cleft lip,655 cases (45.64％) with cleft palate,and 383 cases (26.68％) with cleft lip and palate.801 (55.82％) were male,and 634 (44.18％) were female.In cleft lip,male 60.20％ (n=239) were more than female 39.80％ (n=158);left side was 57.43％ (n=228) more than right 27.96％ (n=111) and the right were more than bilateral 14.61％ (n=58).In cleft lip and palate,male 78.33％ (n=300) were more than female 21.67％ (n=83),left 41.51％ (n=159) were more than right 28.20％ (n=108) and bilateral 30.29％ (n=116).In cleft palate,female 60.00％ (n=393) were more than male 40.00％ (n=262).Blood type AB with cleft lip (28/369) were higher than ones with cleft palate (28/627).All of the differences were statistically significant (P＜0.05).5.09 ％ (n =73) patients with malformation were found out of 1435 cases.The patients with congenital heart disease (n=36,2.51％) was the largest number of total deformity.Conclusions In patients with cleft lip,male is more than female;left side is more than right;unilateral clefts are higher that bilateral ones.In cleft lipand palate,male were more than female,left side were higher.In cleft palate,female were more than male.Blood type AB with cleft lip is higher than that of cleft palate.