Abstract:
:We present a family with a previously undescribed abnormality of the palate and oropharynx which involved the absence of the uvula and the anterior pillar of the fauces, rudimentary posterior pillar of the fauces, and hypernasality. Eight family members over 4 generations are affected in a pattern consistent with autosomal dominant inheritance. A causal role for the FOXF2 gene has been identified and previously reported. We describe the management of the proband, which involved attempting to lengthen the palate and to retroposition the abnormally anteriorly directed velar musculature, along with speech therapy.
journal_name
Cleft Palate Craniofac Jjournal_title
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Associationauthors
Sommerlad B,Seselgyte R,Lees M,Pauws E,Stanier P,Sell Ddoi
10.1177/1055665619880401subject
Has Abstractpub_date
2020-04-01 00:00:00pages
514-519issue
4eissn
1055-6656issn
1545-1569journal_volume
57pub_type
杂志文章abstract:OBJECTIVE:To investigate anatomical variations and abnormalities of cervical spine morphology in unoperated infants with cleft lip and palate. DESIGN:Retrospective cross-sectional investigation of infants born with nonsyndromic cleft lip and palate using computed tomography scans acquired for investigation of a spectr...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/05-023
更新日期:2006-09-01 00:00:00
abstract::Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common congenital deformity, often associated with folate deficiency. The genes MTHFR, MTR, MTRR, and TCN2 play key roles in folate metabolism. The risk of NSCLP associated with particular variants in the folic acid pathway differs among ethnic groups. T...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章,meta分析
doi:10.1597/14.067
更新日期:2015-09-01 00:00:00
abstract:OBJECTIVE:To compare results of Golson Yardstick measurement of dental arch relationships in a sample of 10-year-old Polish children with results of the Golson measurement in published reports. MATERIALS AND METHODS:Plaster models of 28 consecutively treated subjects with unilateral cleft lip and palate (UCLP) that wa...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/07-242.1
更新日期:2009-07-01 00:00:00
abstract:OBJECTIVE:Our aim was to analyze our technique of a modified rotational advancement in conjunction with buccal mucosal grafts (BMGs) in a subgroup of severe cleft cases. DESIGN:A retrospective clinical and photographic evaluation was conducted. Columella angle (CA) and tip projection (TPR) served as instruments in a p...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/16-092
更新日期:2018-07-01 00:00:00
abstract:OBJECTIVE:In wide palatal defects, closure of the nasal layer can prove a considerable challenge. Mobilizing nasal flaps posteriorly usually facilitates soft palate closure. However, the defect is often too wide within the hard palate; hence, bilateral vomerine flaps are frequently required. Despite this, there is ofte...
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:10.1177/1055665617732781
更新日期:2018-03-01 00:00:00
abstract::Aggressive otologic management has been recommended for children with cleft palate because of the almost universal occurrence of otitis media with effusion (OME) in these children and the association of OME with hearing loss and possible language, cognitive, and academic delays. In this study, 28 children with cleft p...
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_0127_cothho_2.3.co_2
更新日期:1996-03-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to investigate whether reduced speech intelligibility in children with cleft palate affects social and personal attribute judgments made by typically developing children of different ages. DESIGN:The study (1) measured the correlation between intelligibility scores of speech s...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/15-088
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:To determine whether there are differences in the anatomical cleft measurements between patients with isolated cleft palate (CP) with or without Pierre Robin sequence (PR) and those with cleft lip and palate (CLP). DESIGN:Prospective case series. SETTING:Tertiary care university-based medical center. PATIE...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/14-255
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:The Alexis retractor is a device that provides simultaneous radial retraction and wound protection during surgical procedures. Although typically used in abdominal and pelvic surgeries, there has been increased development of novel operative techniques utilizing the Alexis retractors in head and neck surgeri...
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:10.1177/1055665619900833
更新日期:2020-05-01 00:00:00
abstract:OBJECTIVE:Since its first description, the A strain of mice have been utilized extensively as models to study the processes involved in clefting of the midfacial region. Of the A substrains, the A/WySn has a spontaneous rate of clefting of the lip of about 20% to 30%. The A/WySn mouse model was utilized in this study t...
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_2001_038_0486_pamaoa_2.0.co_2
更新日期:2001-09-01 00:00:00
abstract:OBJECTIVE:We histologically evaluated iliac particulate cancellous bone and marrow (PCBM) grafted to alveolar clefts in five young adults with cleft lip and palate. PATIENTS AND METHODS:Five young adults with cleft lip and palate underwent secondary alveolar bone grafting. The mean age of the patients was 21.2 years (...
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_2000_037_0055_heoaip_2.3.co_2
更新日期:2000-01-01 00:00:00
abstract::This review continues the series of articles by the Editorial Board reflecting upon the first volume of the journal published in 1964 and celebrating the 50th anniversary of The Cleft Palate-Craniofacial Journal. This editorial examines the contributions of Otolaryngology-Head and Neck Surgery to interdisciplinary cle...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 社论,历史文章
doi:10.1597/14-134
更新日期:2014-07-01 00:00:00
abstract:OBJECTIVE:The objectives of this study were to assess economy of hand motion of residents, fellows, and staff surgeons using a high-fidelity cleft palate simulator to (1) stratify performance for the purpose of simulator validation and (2) to estimate the learning curve. DESIGN:Two residents, 2 fellows, and 2 staff su...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618793768
更新日期:2019-04-01 00:00:00
abstract:OBJECTIVE:To determine the epidemiology of cleft lip and/or palate (CL/P) in births in hospitals of Hamedan City, Iran, and to evaluate the etiologic factors that have a role in the development of these anomalies. DESIGN:This research was a 15-year cross-sectional study (1993 to 2008). PARTICIPANTS:All infants born w...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/09-035
更新日期:2011-07-01 00:00:00
abstract:OBJECTIVE:This study examined social anxiety and measures of psychosocial adjustment in Chinese adults with oral-facial clefts, their unaffected siblings, and age-matched controls. DESIGN:This cross-sectional study utilized a matched case-control study design. PARTICIPANTS:Eighty-five adult cleft lip and cleft palate...
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_2001_038_0126_saicaw_2.0.co_2
更新日期:2001-03-01 00:00:00
abstract:OBJECTIVE:Although Asians have the highest birth prevalence of oral-facial clefts, the majority of gene mapping studies of cleft lip with or without cleft palate (CL/P) have been in European or American Caucasians. Therefore, the objective of this study of Chinese families was to evaluate linkage and association betwee...
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_2002_039_0149_nclwow_2.0.co_2
更新日期:2002-03-01 00:00:00
abstract::Assessment of the role of gravitational forces in the motor control of the velopharyngeal mechanism was the focus of this study. Specifically, the effect of gravity on activation levels of the levator veli palatini and palatoglossus muscles was assessed. Nineteen volunteers repeated a CV syllable in upright and supine...
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_0371_eogovm_2.3.co_2
更新日期:1995-09-01 00:00:00
abstract:OBJECTIVE:Virtual surgery and virtual patients necessitate quantitative data on the area of interest. The study was conducted to exactly describe the embryonic and fetal uvular muscle (MU), relevant for clinical as well as virtual surgery and virtual patient generation. METHOD:Serially sectioned viscerocrania of 10 ab...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/08-181
更新日期:2011-11-01 00:00:00
abstract:OBJECTIVE:The aim of this systematic review was to identify patient-reported outcome (PRO) instruments used in research with children/youth with conditions associated with facial differences to identify the health concepts measured. DESIGN:MEDLINE, EMBASE, CINAHL, and PsycINFO were searched from 2004 to 2016 to identi...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/16-148
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:To evaluate the effect of an American Cleft Palate-Craniofacial Association (ACPA)-approved multidisciplinary team on velopharyngeal insufficiency (VPI) diagnosis and treatment. DESIGN:Retrospective cohort setting; tertiary children's hospital patients; children with cleft palate repair identified through pr...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665620954063
更新日期:2020-10-05 00:00:00
abstract:OBJECTIVE:Studies on the etiology, treatment, and psychosocial effects of clefts among children born with the condition abound. Limited studies, however, have focused on the mothers of these children. This study aimed to explore the immediate reaction of mothers to seeing their children born with a cleft for the first ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665620965407
更新日期:2020-10-16 00:00:00
abstract::This study investigated the efficacy of a parent questionnaire as a component for screening early language development of children 16 to 30 months of age with cleft lip and palate. Thirty nonsyndromic children with cleft lip and palate and 30 children without clefts received the MacArthur Communicative Development Inv...
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_0007_pqfsel_2.3.co_2
更新日期:1995-01-01 00:00:00
abstract::The 22q11.2 deletion syndrome is characterized by wide phenotypic variability, frequently involving characteristic craniofacial features, cardiac malformations, and learning difficulties. Skeletal anomalies are also common and include an obtuse angle of the cranial base, retrognathia, and cervical spine abnormalities....
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/05-196
更新日期:2007-05-01 00:00:00
abstract:OBJECTIVES:To assess the outcome of a modified buccinator flaps' palatal lengthening combined with radical intravelar veloplasty (Bs + Re: IVVP) for the management of postpalatoplasty velopharyngeal incompetence and report the functional and structural changes occurring in the palate. DESIGN:Prospective cohort study o...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665619900621
更新日期:2020-05-01 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:OBJECTIVE:The aim of this study was to determine subphenotypes of clefts based on tooth development. Dental phenotypes (tooth agenesis, supernumerary and impacted teeth, transposition, and structural anomalies) outside the cleft area in the permanent dentition of oral cleft individuals were investigated. DESIGN:Evalua...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/07-064.1
更新日期:2008-07-01 00:00:00
abstract:OBJECTIVE:To gain understanding of perspectives on peer relationships from children with congenital craniofacial anomalies (CFA). DESIGN:This was qualitative research based in a phenomenological approach, using narratives that captured children's responses to open-ended and objective questions about peer relations and...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/15-060
更新日期:2016-09-01 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:The purpose of this study was (1) to determine benefit of the Baha Softband coupled to the Softband for infants and children with bilateral conductive hearing loss; and (2) to verify audibility of the speech spectrum for octave frequencies 500 through 4000 Hz. DESIGN:The research design for this retrospectiv...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/08-178
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:To investigate and compare the effects of maxillary protraction therapy on Class III patients with unilateral cleft lip and palate (UCLP) and Class III patients with noncleft. DESIGN:Prospective controlled clinical trial. PATIENTS:Twenty-six Class III patients with UCLP (mean age: 10.32 ± 1.29 years) and 26...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665620954058
更新日期:2020-09-28 00:00:00