Guomin Wang

Sequential treatment of speech disorders in velocardiofacial syndrome patients: an 8-year retrospective evaluation.

Background: Speech disorders are the most common presentations of patients with velocardiofacial syndrome (VCFS) and are difficult to be treated with very good treatment outcome. The purpose of this study was to evaluate the clinical diagnosis and outcomes of sequential treatment of therapy for VCFS. Methods: A retrospective study of 120 patients (ages ranged from 4.3 to 38 years old, with a mean age of 10.2 years) was conducted and thoroughly reviewed retrospectively oral speech evaluation, oral examinations, and lateral cephalometry of 33 patients. Comparison was made in 33 patients (age range, 4-17 years; mean age, 7.24 years); patients were compared with and age-matched controls, using IQ scores and speech intelligibility tests. A Chinese speech intelligibility test and blowing test were also used to evaluate the outcomes of modified pharyngeal flap surgery, behavioral therapy, and speech therapy. Results: The average age of the primary diagnosis for VCFS was 13.9 years. No cleft palate and reduced mobility in pharyngeal function were found by oral examination. Speech intelligibility in the 33 patients with VCFS was 33%, with an average IQ test score of 67. Chinese speech intelligibility of 33 patients who underwent pharyngoplasty and speech therapy was improved from 47% to 98%, and the duration of blowing test increased from 17 to 38 seconds. The average length of therapy period was estimated to be 8 months. Conclusions: Hypernasality and reduced mobility in palate and pharyngeal structures of VCFS patients could be measured with Chinese speech intelligibility test and blowing tests. The pharyngeal flap surgery and the behavioral therapy are proved to be an effective protocol for VCFS.

Utilization of three-dimensional computed tomography for craniofacial phenotypic analysis in children with velocardiofacial syndrome.

Objectives: To analyze variants of the craniofacial phenotypes in children with velocardiofacial syndrome (VCFS) and children with cleft palates with a new protocol of landmarks using a three-dimensional computed tomography (CT)-reconstructed model in a cross-sectional group experimental design. Materials and Methods: We present a retrospectively reviewed case series of 21 patients with VCFS, verified by short-tandem repeat techniques, and 20 children with cleft palate with age- and sex-matched controls from the Craniofacial Cleft Department of Oral and Maxillofacial Surgery of the 9th Shanghai Peoples Hospital. The records during the period between January 2005 and December 2008 were analyzed. The sample population of 41 children in this study was scanned with spiral CT. These images were reconstructed into three-dimensional models by SimPlant 11.2 and were analyzed with a new protocol of landmarks to test the variants of craniofacial phenotypes. Results: All of the children with VCFS demonstrated velopharyngeal incompetence and craniofacial deformities. Measurements in the standard coordinate system demonstrated significant shorter cranial base, cervical vertebrae, longer maxilla height, and palatal angle. For the velopharyngeal variants, greater depth but lesser width of the pharyngeal cavity was shown in the VCFS group. Conclusions: Three-dimensional CT can provide precise data on craniofacial variants in children with distinctive morphologic features of VCFS.

Characteristic Face: A Key Indicator for Direct Diagnosis of 22q11.2 Deletions in Chinese Velocardiofacial Syndrome Patients

Velocardiofacial syndrome (VCFS) is a disease in human with an expansive phenotypic spectrum and diverse genetic mechanisms mainly associated with copy number variations (CNVs) on 22q11.2 or other chromosomes. However, the correlations between CNVs and phenotypes remain ambiguous. This study aims to analyze the types and sizes of CNVs in VCFS patients, to define whether correlations exist between CNVs and clinical manifestations in Chinese VCFS patients. In total, 55 clinically suspected Chinese VCFS patients and 100 normal controls were detected by multiplex ligation-dependent probe amplification (MLPA). The data from MLPA and all the detailed clinical features of the objects were documented and analyzed. A total of 44 patients (80.0%) were diagnosed with CNVs on 22q11.2. Among them, 43 (78.2%) presented with 22q11.2 heterozygous deletions, of whom 40 (93.0%) had typical 3-Mb deletion, and 3 (7.0%) exhibited proximal 1.5-Mb deletion; no patient was found with atypical deletion on 22q11.2. One patient (1.8%) presented with a 3-Mb duplication mapping to the typical 3-Mb region on 22q11.2, while none of the chromosomal abnormalities in the MLPA kit were found in the other 11 patients and 100 normal controls. All the 43 patients with 22q11.2 deletions displayed characteristic face and palatal anomalies; 37 of them (86.0%) had cognitive or behavioral disorders, and 23 (53.5%) suffered from immune deficiencies; 10 patients (23.3%) manifested congenital heart diseases. Interestingly, all patients with the characteristic face had 22q11.2 heterozygous deletions, but no difference in phenotypic spectrum was observed between 3-Mb and 1.5-Mb deletions. Our data suggest that the characteristic face can be used as a key indicator for direct diagnosis of 22q11.2 deletions in Chinese VCFS patients.

Measurement and evaluation of the alar base in unilateral secondary lip nasal deformities by three-dimensional computed tomography.

Objective This study aimed to analyze the asymmetry of the pyriform aperture and alar base in patients with unilateral secondary nasal deformities by three-dimensional computed tomography (3D-CT). Methods 3D-CT images of the subject group of 101 adult patients and of a control group of 65 normal adults were examined. Sixty-nine patients without alveolar bone grafting (ABG) were classified as Group A, and 32 patients with ABG were classified as Group B. Seven landmarks (INM, LPA, IPA, Gbase, Gsup, Glat, and Sbal) were measured for both the subject and control groups, and comparative analyses were done to assess the degree of asymmetry in the subject group. Results For over 95% of Group A and 80% to 85% of Group B, the index of LPA and IPA showed asymmetry or marked asymmetry. The index of Gbase, Glat, Gsup, and Sbal showed symmetry for around 50% of Group A and about 60% of Group B. In Group A, dorsal, lateral, and caudal translocation was found on the cleft side in LPA and IPA, while all soft landmarks showed dorsal translocation. In Group B, caudal translocation was found in both LPA and IPA, but only LPA appeared dorsal on the cleft side, while Glat showed dorsal and caudal translocation. Conclusion The results indicated that the degree of asymmetry of hard tissue landmarks far exceeded that of the soft tissue landmarks, and the degree of asymmetry of pyriform aperture was higher than expected for patients after ABG.

Influence of alveolar-bone grafting on the nasal profile: unilateral cleft lips, alveoli, and palates.

Purpose: Secondary bone grafting plays an important role in the multimodal therapy of patients with cleft lips, alveoli, or palates. Through a comparative study of the nasal profile before and after alveolar bone grafting, this article aimed to determine the appropriate timing of operation and keys to success. Methods: In the study, 38 cases (23 boys and 15 girls aged 9-13 years, with an average of 11.4 years) were examined of patients with unilateral cleft lips or palates, upon whom secondary bone grafting was performed under general anesthesia. Comparative studies are conducted on their nostril widths and heights in both the cleft side and the noncleft side as well as the widths and angles of the alar bases measured in the preoperative, postoperative, and follow-up (6 months) periods respectively. Results: Of the 29 cases examined 6 months after the operation, 4 indicate failure as the amount of bone loss exceeds 50%, whereas in the other 25 cases, both the nostril widths of the cleft side have increased, and the nostril heights of the cleft side have decreased significantly (P < 0.01). Conclusions: As shown in the study, the nasal profile after alveolar bone grafting is changed obviously; thus, it is recommended that patients not receive rhinoplasty before bone grafting or have both operations at the same time.

Current Status of Cleft Lip and Palate Management in China

Several million individuals with cleft lip and palate (CLP) exist in China, and it is estimated that at least 30,000 newborns with CLP are born every year. How to give them an optimal treatment with excellence is still a problem in most areas. The treatment of cleft patients presents various situations around world that are different from those in the United States and Europe. In this article, we reviewed the current status of CLP management in our country and shared our experience from one of the biggest CLP centers in China. We hope the management of cleft can be improved, and more patients can be treated by dedicated teams and dedicated centers in China.

Severe bilateral Tessier 3 clefts in a Uighur girl: The significance and surgical repair

The Tessier 3 cleft is one of the rarest congenital craniofacial clefts, which often extends through the upper lip, the alar groove and the medial canthus. Only a few cases have been reported. There is no standardized method for the surgical treatment for this condition in the literature, and to obtain an acceptable outcome is difficult. A Uighur girl with severe bilateral Tessier 3 clefts and associated orofacial deformities is described here, and a novel protocol for clefts of this severity and rarity is presented. This study focuses particularly on describing the surgical procedures and techniques. Further treatments required for the cleft-associated deformities during later growth and developmental stages are also discussed in detail.

The nutrition status of mild form Pierre Robin sequence before cleft palate repair: an analysis of 34 cases.

OBJECTIVEnThe objective of this study was to evaluate the nutrition status before cleft palate repair in patients with mild form isolated Pierre Robin Sequence (PRS).nnnMETHODSnDetailed history and physical examination of 34 patients with mild form isolated PRS were compared with those of the control group with isolated cleft palate (ICP) at the age of 2 and 12 months.nnnRESULTSnThe height and weight of the 2 groups at 2 months were significantly different, whereas there was no significant difference at 12 months. The height and weight grades for PRS improved from 2 to 12 months. The feeding grades differed significantly at 2 months between the 2 groups, but showed no significant difference at 12 months.nnnCONCLUSIONSnPatients with mild form isolated PRS had a nutrition status similar to patients with ICP at the age of 12 months. General conditions of mild form isolated PRS pose no problem with cleft palate repair at 12 months.

Do patients with isolated Pierre Robin Sequence have worse outcomes after cleft palate repair: A systematic review

Cleft palate repair for Pierre Robin Sequence (PRS) patients has always been a challenge for surgeons and anesthetists. The aim of this systematic review is to investigate the outcome of cleft palate repair for PRS patients compared with cleft palate-only patients. All papers published before October 2014 were searched in the databases PubMed and MEDLINE. Search terms included Pierre Robin Sequence, cleft palate repair, and speech result. Additional studies were identified by hand searching the reference lists of the papers retrieved from electronic search. Two independent reviewers assessed the eligibility of studies for inclusion, extracted the data, and assessed the quality of the studies. Six studies met the inclusion criteria. All but one study had multiple deficiencies in study designs. Four studies assessed the fistula rate of both groups, and all studies assessed some aspect of the speech results. Conflicting results and a lack of high-quality and long-term outcomes of reviewed studies provided no conclusive scientific evidence about whether the outcome of cleft palate repair for PRS patients was better or worse than cleft palate-only patients. Further well-designed, well-controlled, and long-term studies are needed.

Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families

TBX22 is a gene which contribute to cleft lip/palate, and many mutation sites of TBX22 have been reported. However, the exact role of TBX22 mutation in Chinese nonsyndromic cleft lip/palate (NSCL/P) family was not clearly explored. In this study, we tried to investigate the profiles and effects of TBX22 mutation in Chinese NSCL/P family. Members of two Chinese NSCL/P families and 200 normal controls were enrolled in this study. Further, DNA sequence and bioinformatic analysis for TBX22 were performed. The results showed that a novel and essential splicing site mutation,