Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population.

Rs560426 at 1p22 was proved to be associated with NSCL/P (non-syndromic cleft lip with or without the palate) in several populations, including Han Chinese population. Here, we conducted a deep sequencing around rs560426 to locate more susceptibility variants in this region. In total, 2,293 NSCL/P cases and 3,235 normal controls were recruited.

Force balance reconstruction of orbicularis oris in correction of unilateral cleft lip deformity.

Objectives: Short-term outcome evaluation for the correction of unilateral cleft lip deformity with a new technique.

Methods: Forty-four patients with unilateral cleft lip deformity were included in the study and in which the orbicularis oris muscle was reconstructed to achieve the optimal force balance of reconstructed orbicularis oris. The photometric two-dimensional indexes, including the philtrum oblique angle and asymmetry ratios (lip height, lip width, vertical distance from the white roll to the vermilion bottom at the Cupid's bow point, and vertical distance from the Cupid 's bow points to facial midline), were employed to measure and evaluate the outcome.

Short-term nasal symmetry repaired by force-balanced muscular reconstruction technique.

Objectives: This study aimed to compare the postoperative outcome of the new and classical muscular reconstruction technique combined with nasal internal-fixation method for secondary deformity post unilateral cleft lip repair. A rationale is provided for the further surgical improvement of secondary deformities.

Methods: Sixty patients aged 4-18 years with secondary unilateral cleft lip-nose deformity were involved in this research.

[Palatal fistula rate after Huaxi Sommerlad-Furlow palatoplasty].

Objective: This study aimed to determine the palatal fistula rate, explore the influencing factors of Huaxi Sommerlad-Furlow (SF) palatoplasty.

Methods: A retrospective review of 385 consecutive cleft-palate cases was performed to determine the incidence of postoperative fistula and assess the possible contributing factors, such as sex, weight, age, cleft type, operator skills, preoperative white blood cell, preventive antibiotic use, and postoperative temperature.

Results: Fistulas occurred in 15/385 patients (3.

VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese.

Objective: Non-syndromic cleft lip with or without palate (NSCL/P) is one of the most common human birth defects, it results from multiple genetic and environmental risk factors. Recently, GWA studies identified associations between NSCL/P and two genetic risk loci, rs7078160 and rs4752028, at VAX1.

Design: Currently, we tried to investigate the roles of the two loci among 302 NSCL/P trios (129 non-syndromic cleft lip only (NSCLO) trios and 173 non-syndromic cleft lip and cleft palate (NSCLP) trios) from Western Han Chinese.

Homozygote C/C at rs12543318 was risk factor for non-syndromic cleft lip only from Western Han Chinese population.

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a complex disorder, and it results from both of the genetic modifiers and environmental factors, with genetic modifiers contributes to it more than environmental factors. GWASs made great progress in identifying the candidate genes for NSCL/P, but the findings need to be replicated in other populations. In this study, we selected eleven SNPs from recent GWASs and GWAS meta-analysis to investigate their associations among 308 NSCL/P trios (134 non-syndromic cleft lip only (NSCLO) trios and 174 non-syndromic cleft lip with cleft palate (NSCLP) trios) from Han Chinese population.

Rs12941170 at SOX9 gene associated with orofacial clefts in Chinese.

Objective: Non-syndromic orofacial cleftings (NSOCs) are considered as complex trait, which results from genetic and/or environmental modifiers. Current findings could only explain small portion of the NSOCs. SOX9 gene plays an important role during craniofacial development in animal models and the Pierre Robin sequence (PRS).