Abstract:
OBJECTIVE:The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is generally unknown. Some factors are suggestive of a genetic basis for PRS. The purpose of this study was to compare genetic information on PRS available in the literature and in a cytogenetic database to facilitate focused genetic studies of PRS. DESIGN:After searching Medline for "pierre robin and genetics," the Mendelian Cytogenetics Network database for "robin" and "pierre robin," and two reviews from the Human Cytogenetics Database for "cleft palate" and "micrognathia," a comparison of the data and a search in Online Mendelian Inheritance in Man (OMIM) Gene Map was performed to identify relevant candidate genes. RESULTS:The findings revealed consistency to a certain degree to loci 2q24.1-33.3, 4q32-qter, 11q21-23.1, and 17q21-24.3. A search in the OMIM Gene Map provided many candidate genes for PRS in these regions. The GAD67 on 2q31, the PVRL1 on 11q23-q24, and the SOX9 gene on 17q24.3-q25.1 are suggested to be of particular importance. CONCLUSION:Candidate loci and a few potential candidate genes for PRS are proposed from the present study. This may enable researchers to focus their effort in the studies of PRS.
journal_name
Cleft Palate Craniofac Jjournal_title
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Associationauthors
Jakobsen LP,Knudsen MA,Lespinasse J,García Ayuso C,Ramos C,Fryns JP,Bugge M,Tommerup Ndoi
10.1597/05-008.1keywords:
subject
Has Abstractpub_date
2006-03-01 00:00:00pages
155-9issue
2eissn
1055-6656issn
1545-1569pii
05-008journal_volume
43pub_type
杂志文章,评审abstract:OBJECTIVE:The purpose of this project was to develop objective computer-based methods to measure nasal asymmetry and abnormality in children undergoing treatment of unilateral cleft lip (UCL) and to determine the correlation of these measures to clinical expectations. PARTICIPANTS:Thirty infants with UCL undergoing cl...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/16-035
更新日期:2017-09-01 00:00:00
abstract:OBJECTIVE:To describe the different myoplasty techniques that could be used for limited commissural reconstruction. METHODS:Twelve cases of congenital macrostomia are reported, with different cleft lengths and termination sites. For each case, an orbicular myoplasty was performed, and in the case of extension to the a...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/05-190.1
更新日期:2008-03-01 00:00:00
abstract::Objective : Submucous cleft palate (SMCP) is a congenital condition associated with abnormal development of the soft palate musculature. In a proportion of cases, this results in velopharyngeal insufficiency (VPI), the treatment for which includes pharyngeal flap surgery, pharyngoplasty, and palate reconstruction. The...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章,评审
doi:10.1597/13-046
更新日期:2014-11-01 00:00:00
abstract:OBJECTIVE:North Carolina has several programs that identify high-risk women and children for needed services, including the Child Service Coordination Program (CSCP). This study determines CSCP referral rates among infants with orofacial clefts (OFCs) and predictors of CSCP referral. We hypothesized receiving Medicaid ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/05-198
更新日期:2007-01-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to assess the volume, area, and dimensions of the oropharyngeal airway (OPA) in a previously repaired nonsyndromic unilateral cleft lip and palate (UCLP) versus bilateral cleft lip and palate (BCLP) patients when compared with noncleft controls using cone beam computed tomograp...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/15-322
更新日期:2018-07-01 00:00:00
abstract::An examination of the relation between the number of teeth used as the abutment of a fixed prosthesis and the increase of the functional loading capacity of the upper jaw was conducted in four male patients with unilateral cleft lip and palate (age range, 19 to 21 years). This was measured at the maximum biting force ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/1545-1569_1995_032_0442_paifpw_2.3.co_2
更新日期:1995-09-01 00:00:00
abstract::Craniopagus twins are a rare phenomenon and present numerous challenges in separation. Due to the paucity of data, it is paramount to evaluate outcomes based on case studies to continue improving medical and surgical management of these patients. We present a case report of craniopagus twins cared for by the senior au...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618811534
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:Longitudinal evaluation of asymmetry of the surgically managed unilateral cleft lip and palate (UCLP) to assess the impact of facial growth on facial appearance. DESIGN:Prospective study. SETTING:Glasgow Dental Hospital and School, University of Glasgow, United Kingdom. PATIENTS:Fifteen UCLP infants. METH...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618780108
更新日期:2019-04-01 00:00:00
abstract::The development of the dental arch is well designed for adaptive and compensatory growth. In this study, the relationship between the sleep position and dental arch development was investigated. A group of 42 infants with unilateral complete cleft lip and palate with either prone (16) or supine (26) sleep position wer...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/1545-1569_1994_031_0179_mdaabd_2.3.co_2
更新日期:1994-05-01 00:00:00
abstract:OBJECTIVE:Comparison of the effects of vomerine flap (VF) closure of the hard palate at the time of lip repair with non-closure of the hard palate in subjects with unilateral cleft lip and palate (UCLP). DESIGN:Retrospective, single-blinded, cohort study. SETTING:Study model sets of 40 consecutive, non-syndromic, inf...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/11-297
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:To understand the experience of families with children undergoing cleft surgery following adoption from a country outside the United States. To identify factors, including the timing of surgery, that influence family function throughout the surgical experience. DESIGN:Semistructured qualitative interviews we...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/14-260
更新日期:2016-07-01 00:00:00
abstract::The anatomy of the greater palatine foramen has variation with regard to location, but there have been no reports on the absence of a complete foramen. We present 2 cases of pediatric patients with cleft palates possessing a greater palatine "notch" as opposed to a bony foramen. Awareness of this anomaly is advantageo...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618762879
更新日期:2018-09-01 00:00:00
abstract::Objective : To investigate the change in occlusal evaluations from the 5-year-olds' index to the Goslon Yardstick and to compare the relationship between the evaluations and maxillofacial growth in patients with complete unilateral cleft lip and palate (UCLP). Design : A prospective longitudinal study. Subjects : The ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/12-103
更新日期:2014-11-01 00:00:00
abstract::This study was designed to investigate maxillofacial morphology in adolescents and adults with unrepaired cleft palate, with or without cleft lip. Twenty-two Chinese patients with unilateral cleft lip and palate (the UCLP group), and 21 Chinese with cleft palate (the CP group) were cephalometrically evaluated and clas...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/1545-1569_1992_029_0419_caommi_2.3.co_2
更新日期:1992-09-01 00:00:00
abstract::Craniofacial growth and development involve both size and shape variations. Shape variations can be assessed independently from size using mathematical methods such as the Fourier series. A method for the reconstruction of outlines starting from selected landmarks and for their Fourier analysis has been developed and ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/1545-1569_1996_033_0206_faocs_2.3.co_2
更新日期:1996-05-01 00:00:00
abstract::Psychosocial research into cleft lip and/or palate and craniofacial conditions has historically employed a "medical model" of research that sought to clarify whether patients experienced psychopathology as a consequence of the birth defect. In recent years, this paradigm has been replaced by a "social science model" o...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章,评审
doi:10.1597/1545-1569_1991_028_0150_daiipr_2.3.co_2
更新日期:1991-04-01 00:00:00
abstract::Monobloc Le Fort III distraction osteogenesis allows superior skeletal advancement in treating severe syndromic craniosynostosis. We report a rare orbital complication in a 3-year-old boy with Crouzon syndrome who developed right-eye exodeviation with limited abduction during the intradistraction period following this...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/14-013
更新日期:2015-07-01 00:00:00
abstract::Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/15-078
更新日期:2017-11-01 00:00:00
abstract::The protruding and deviated premaxilla in bilateral complete cleft lip and palate (BCL/P) patients causes a perplexing problem in achieving a tension-free primary lip closure. An innovative noninvasive active intraoral Fixed Pre-Surgical Cleft Orthopedic (FPSCO) appliance is presented that has enabled to successfully ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665617732783
更新日期:2018-04-01 00:00:00
abstract::This case report intends to provide the facial characteristics of Escobar syndrome and to describe the orthodontic treatment of a 12-year-old female patient diagnosed with it. Escobar syndrome, a variant of the multiple pterygium syndrome, is a rare disorder with many systemic, facial, and oral manifestations.The pati...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618823416
更新日期:2019-08-01 00:00:00
abstract::Objective : To examine the process of team-oriented care for children with orofacial clefts. Design : Systematic review of available studies reporting team-oriented management of children and adults with orofacial clefts. We identified studies from OVID, PsychINFO, REHABDATA, PubMed, and The Cleft Pa...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章,评审
doi:10.1597/11-137
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:Two main objectives were established. First objective was to determine the prevalence of the cleft lip and/or cleft palate (CL/P) in Thailand from 2012 to 2015 using the orofacial clefts (OFCs) registry and civil registration. Second objective was to conduct a quality control of this OFC registry especially f...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665620987677
更新日期:2021-01-25 00:00:00
abstract:OBJECTIVE:The current study was designed to evaluate the neurobiology of reading in a group of men with nonsyndromic clefts of the lip or palate (NSCLP) compared with healthy controls by positron emission tomography. DESIGN:SUBJECTS included eight men with NSCLP compared with six healthy control men. By using radioact...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/05-043
更新日期:2006-11-01 00:00:00
abstract:OBJECTIVE:Premaxillary distraction osteogenesis was introduced using intraoral devices to correct maxillary hypoplasia and lengthen the alveolar bone horizontally in a patient with unilateral cleft lip and palate. METHODS:For premaxillary distraction osteogenesis, Le Fort I osteotomy was performed. Vertical osteotomy ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/14-105
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVE:Comparison of craniofacial morphology in bilateral cleft lip and palate patients to that of a noncleft control group at the age of 15 years. DESIGN:A cross-sectional study of cephalometric data. SUBJECTS AND METHODS:Cephalometric records of 41 consecutive patients (32 boys and 9 girls) with nonsyndromic com...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章,多中心研究
doi:10.1597/07-166.1
更新日期:2008-11-01 00:00:00
abstract:BACKGROUND:Mucous cysts of the nose are a rare complication of rhinoplasty. They may develop as a result of implantation or herniation of mucosa. The entrapped epithelium may proliferate, forming a subcutaneous cyst. PATIENTS AND METHODS:Two patients with unilateral cleft lip nose deformity had previously undergone co...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/08-236
更新日期:2010-11-01 00:00:00
abstract::This paper discusses the social and psychological experiences of patients with the most severe forms of craniofacial deformity. The paper concludes that individuals with the most severe forms of craniofacial deformities are at risk for experiencing social and psychological stress and for having their quality of life n...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章,评审
doi:10.1597/1545-1569_1992_029_0578_sapeom_2.3.co_2
更新日期:1992-11-01 00:00:00
abstract:OBJECTIVE:This research studied the relationship between associated congenital malformations and the mental and psychomotor development of children with clefts. DESIGN:The study was cross-sectional. SETTING:The study was conducted in a university hospital for children. PARTICIPANTS:The sample consisted of 148 childr...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/1545-1569_2003_040_0297_aiotrb_2.0.co_2
更新日期:2003-05-01 00:00:00
abstract::We review 13 reported cases and add the evaluations of 2 new patients with the branchio-oculo-facial (BOF) syndrome, a recently delineated autosomal dominant disorder with highly variable expression. This condition has a distinctive phenotype with characteristic craniofacial abnormalities consisting of aplastic or hem...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章,评审
doi:10.1597/1545-1569_1991_028_0096_tbofs_2.3.co_2
更新日期:1991-01-01 00:00:00
abstract::Although several significant research projects have arisen from international cooperation, especially in the field of genetics, these have been the exception rather than the rule. However, those of us who had the privilege and delight of participating in the World Health Organization meetings were struck by a common r...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 共识发展会议,杂志文章,评审
doi:10.1597/03-214.1
更新日期:2004-05-01 00:00:00