Abstract:
OBJECTIVE:First and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that encompass diverse, superimposed, and heterogeneous phenotypes within the so-called oculoauriculovertebral spectrum. Nine members of a Brazilian family presenting typical branchial arch involvement in association with external opthalmoplegia are reported. CONCLUSION:Macrostomia or abnormal mouth contour, preauricular tags, and uni- or bilateral ptosis were present in association in several patients. To our knowledge, this is the first report on this type of autosomal dominant condition. Clinical and genetic aspects are discussed.
journal_name
Cleft Palate Craniofac Jjournal_title
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Associationauthors
Richieri-Costa A,Ribeiro LAdoi
10.1597/05-060.1subject
Has Abstractpub_date
2006-07-01 00:00:00pages
429-34issue
4eissn
1055-6656issn
1545-1569pii
05-060Rjournal_volume
43pub_type
杂志文章abstract:OBJECTIVE:To investigate long-term, longitudinal speech outcome in patients born with unilateral cleft lip and palate treated according to a two-stage primary palatal protocol with early veloplasty and delayed hard palate closure. DESIGN:Retrospective, longitudinal cohort study. Setting : A university hospital in west...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/11-085
更新日期:2012-11-01 00:00:00
abstract:OBJECTIVE:Descriptions of the innervation of the soft palate muscles in previous studies have varied according to the author. In the present study, distribution of the lesser palatine nerve, through which motor fibers of the facial nerve are considered to reach soft palate muscles, and that of the pharyngeal plexus in ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/04-142r.1
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:To present a historical appraisal of the use of anthropological and cephalometrical facial soft tissue measurements in cleft patients. DESIGN:The McDowell Indexes and a Medline search were used to trace references up to 1999. Also, references listed with chapters and articles on facial clefts were searched f...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 历史文章,杂志文章
doi:10.1597/1545-1569_2001_038_0577_faicpa_2.0.co_2
更新日期:2001-11-01 00:00:00
abstract:OBJECTIVE:To investigate the trend in cleft care at a major children's referral center in Bangkok, Thailand. STUDY DESIGN:Retrospective chart review. PATIENTS AND METHODS:A review of 129 patients under 18 years of age who had underwent care by the senior author for cleft treatment between January 2015 and October 201...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665620922103
更新日期:2020-09-01 00:00:00
abstract::Congenital midline cervical cleft is a rare and generally isolated malformation of the ventral neck region with no clear etiology established. Mandibular deformities, such as micrognathia, could be considered as a consequence of a cleft cervical contracture. Complete surgical excision of the subcutaneous fibrous cord ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665620987412
更新日期:2021-01-13 00:00:00
abstract:OBJECTIVE:We aimed to characterize the fibroblast phenotype of patients by analyzing gene and protein expression of cleft lip and/or cleft palate fibroblasts in relation to collagen turnover and extracellular matrix remodeling. PATIENTS:Human palatal fibroblasts were obtained from three healthy subjects without cleft ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/07-196.1
更新日期:2010-07-01 00:00:00
abstract:OBJECTIVE:The purpose of this investigation was to study the social environment of families of children with different types of nonsyndromic oral clefts (OC) and to compare these groups with a control population of families of children without clefts. DESIGN:The study compared three nonsyndromic oral cleft groups and ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/03-118.1
更新日期:2005-03-01 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::Between 1983 and 1995, 12 children with Pierre Robin sequence were treated with a subperiosteal release of the floor of the mouth (SRFM) to correct severe upper-airway obstruction (group 1: n = 10) and prolonged feeding difficulties (group 2: n = 2). Eight children had isolated Pierre Robin sequence, while four had as...
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_0468_srotfo_2.3.co_2
更新日期:1996-11-01 00:00:00
abstract:OBJECTIVE:The goal of the consolidation phase of mandible distraction is to maintain the improvement in maxillomandibular form and relationship while the generated tissue ossifies. During this period, external deforming forces can act on the healing generated bone. The purpose of this study was to describe the potentia...
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_0233_caotcp_2.0.co_2
更新日期:2003-05-01 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:Clinical studies have shown both abnormal and normal mental and psychomotor development in patients with craniosynostosis. However, a number of confounding variables make study comparisons difficult. For these reasons, the present study describes early neuromotor development in an homogeneous rabbit model of ...
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_0486_enbicr_2.0.co_2
更新日期:2003-09-01 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:BACKGROUND:One of the key challenges facing young adults with cleft lip and/or palate is making decisions about starting a family, because there is an increased likelihood of their own child being diagnosed with cleft lip and/or palate. Should this occur, a second key challenge is how to deal with their child's diagnos...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/13-314
更新日期:2015-07-01 00:00:00
abstract::The three-dimensional, facial soft-tissue changes of 24 patients with various cleft types following transpalatal Le Fort I osteotomy were measured using laser scanning techniques, radial measurements, and a color millimetric scale. There was a varying degree of midface retrusion in the different cleft groups, and a ve...
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_1997_034_0036_tdatpt_2.3.co_2
更新日期:1997-01-01 00:00:00
abstract:OBJECTIVE:To examine the three-dimensional morphology of internal structures of the craniofacial region and present the orthodontic problems in an unusual case with nasal aplasia. PATIENT:The patient was an 11.5-year-old boy with aplasia of the nose and nasal cavity with extremely constricted nasopharyngeal airway. He...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/02-112
更新日期:2004-03-01 00:00:00
abstract::An unusual submucous palatal cleft is presented. In addition to the usual triad of bifid uvula, posterior bony notching, and diastasis of the velar musculature, there was a linear bony cleft involving only the maxillary component of the hard palate. The palatine bone was intact between the posterior notch and the maxi...
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_1993_030_0590_scpwad_2.3.co_2
更新日期:1993-11-01 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:This objective of this study was to determine the effect of presurgical nasoalveolar molding on long-term nasal shape in complete unilateral clefts. DESIGN:The study was retrospective, and the subjects were chosen at random. Nasal casts of the subjects were scanned in three dimensions. Each nose was best fit...
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_1999_036_0391_lteonm_2.3.co_2
更新日期:1999-09-01 00:00:00
abstract::Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome is a rare autosomal dominant disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. Mutations in the p63 gene recently have been shown to be etiologic in the majority of cases of ankyloblepharon-ectodermal dys...
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:10.1597/06-065
更新日期:2007-05-01 00:00:00
abstract:OBJECTIVE:In a previous study, children with cleft palate with hard palate closure at 12 months of age showed more typical phonological development than did children with an unrepaired hard palate at 36 months of age. This finding was based on narrow transcription of word initial target consonants obtained from a simpl...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/10-141
更新日期:2012-05-01 00:00:00
abstract::Oculofaciocardiodental syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems. The clinical diagnosis of oculofaciocardiodental syndrome can be challenging due to a wide variety of symptoms. Oculofaciocardiodental syndrome is found only in females due to its X-linked inheritance patt...
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:10.1597/10-256
更新日期:2012-09-01 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::The influence of an open residual cleft in the hard palate on speech was studied in nine children with cleft lip and palate at about 7 years of age. The subjects were treated by early repair of the velum (before 12 months of age), whereas the repair of the cleft in the hard palate was postponed until about 8 years of ...
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_0324_savfic_2.3.co_2
更新日期:1996-07-01 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::This letter is about a recent publication in the Cleft Palate Craniofacial Journal titled: "The significance of uvula after palatoplasty: A new technique to improve the aesthetic outcome" published by Elsherbiny et al (Cleft Palate Craniofacial J 2018;55(3):451-455). The authors present the use of one hemi-uvula for u...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 评论,信件
doi:10.1177/1055665619893902
更新日期:2020-05-01 00:00:00
abstract::Pressure-flow data are often used to provide information about the adequacy of velopharyngeal valving for speech. However, there is limited information available concerning simultaneous pressure-flow measurements for oral and nasal sound segments produced by normal speakers. This study provides normative pressure, flo...
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_1991_028_0398_pfmfso_2.3.co_2
更新日期:1991-10-01 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 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:Saethre-Chotzen Syndrome (SCS) is an autosomal dominant disorder with widespread phenotypic variability. Cardinal features include coronal synostosis, blepharoptosis, and limb abnormalities. Cleft palate can also occur, but there are few reports on its frequency. This study was undertaken to determine the pre...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/08-088.1
更新日期:2009-05-01 00:00:00