OBJECTIVETo compare the efficacy of two surgical techniques for controllong nasal width after Le Fort I osteotomy.

METHODSFifty-five patients who received the Le Fort I osteotomy have been included in this study. They were randomly divided into 2 groups. The experimental group received extraoral ABS, and the control group received traditional intraoral ABS. 3D photos of the patient's face were taken before operation and at postoperative 3 months. Alar width was measured on the 3D photos. Data was reported as means and standard deviations, and statistic analysis was done by using student t test.

RESULTSCompared with presurgical data, G. lat-G. lat increased by (2.66 +/- 1.47) mm, Al-Al increased by (2.20 +/- 1.22) mm and Sbal-Sbal increased by (1.30 +/- 1.33) mm in experimental group. G. lat-G. lat increased by (1.38 +/- 1.29) mm, Al-Al increased by (1.06 +/- 0.95) mm and Sbal-Sbal increased by (0.36 +/- 1.33) mm in the control group. There was significant difference between two groups.

CONCLUSIONSThe surgical technique of ABS is the most important factor for determining the postoperative alar width. Both techniques have better effect on the Sbal-Sbal width control than the G. lat-G. lat and Al-Al width control. Traditional intraoral ABS can more effectively control the alar width. Both techniques cannot completely control the alar base widening after Le Fort I osteotomy.

Face ; Humans ; Nose ; anatomy & histology ; Nose Deformities, Acquired ; surgery ; Osteotomy, Le Fort ; adverse effects ; Photography

Humans ; Ulcer/pathology* ; Herpesvirus 4, Human ; Epstein-Barr Virus Infections ; Skin Diseases

Alanine Transaminase ; Animals ; Carbon Tetrachloride ; Gastrointestinal Microbiome ; Liver/pathology* ; Liver Cirrhosis/pathology* ; Male ; Mice ; Mice, Inbred C57BL ; Quinazolines

OBJECTIVESynpolydactyly (SPD, MIM 186000), also known as syndactyly type II, is a dominantly inherited limb malformation with incomplete penetrance and variable expressivity. Polyalanine tract expansion in HOXD13 has been shown to be the disease-causing mutation in SPD. The present study was designed to identify mutation in HOXD13 and to provide prenatal diagnosis, in a large Chinese SPD family consisting of 54 individuals.

METHODSThe proband and 4 other affected individuals in the family were evaluated physically and radiologically to ascertain the SPD phenotype. Genomic DNA was extracted from peripheral blood samples obtained from 18 family members (9 affected and 9 unaffected), and from amniotic fluid and chorionic villus samples obtained from the proband during her two consecutive pregnancies. With the use of a pair of specific primers, a fragment of 161bp was amplified by polymerase chain reaction (PCR) to cover the imperfect GCN triplet repeat sequence in exon 1 of HOXD13 encoding the 15-residue polyalanine tract. The PCR products were detected by agarose gel electrophoresis, and sequenced after cloning into pMD18T vector. To confirm prenatal diagnosis, haplotype analysis was also performed by allele-typing three microsatellite markers, including the intronic CA repeats in HOXD13.

RESULTSDigital and radiographic findings indicated a typical SPD phenotype in the family. These included 3/4 finger syndactyly and 4/5 toe syndactyly with an extra digit in the syndactylous web. Unilateral finger syndactyly in the proband, unilateral toe syndactyly in 2 individuals, bilateral brachydactyly of the fifth toes in 1 individual, and clinodactyly of the fifth fingers in 4 individuals were also observed, indicating variable expressivity. Gel electrophoresis of the PCR products showed an additional longer fragment in all 9 affected individuals but not in the unaffected ones. Sequence analysis of the longer fragment revealed a 9-alanine expansion. The expansion was detectable in DNA from the amniotic fluid and chorionic villus samples. Furthermore, haplotype analysis ruled out potential contamination of the maternal DNA. These suggested that the two fetuses carried the same polyalanine expansion.

CONCLUSIONHOXD13 polyalanine expansion was detected in a large Chinese family with SPD and prenatal diagnosis of two affected fetuses was achieved. This is the first report on prenatal diagnosis of SPD by detecting the HOXD13 polyalanine expansion in the Han population of the Chinese mainland.

Base Sequence ; China ; DNA Mutational Analysis ; Family Health ; Female ; Homeodomain Proteins ; genetics ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Peptides ; genetics ; Polydactyly ; diagnosis ; genetics ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis ; methods ; Transcription Factors ; genetics ; Trinucleotide Repeat Expansion