Abstract：
OBJECTIVE:Mutations in patched (PTCH) cause the nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome. Nevoid basal cell carcinoma syndrome may present with developmental anomalies, including rib and craniofacial abnormalities, and predisposes to several tumor types, including basal cell carcinoma and medulloblastoma. Cleft palate is found in 4% of individuals with nevoid basal cell carcinoma syndrome. Because there might be specific sequence alterations in PTCH that limit expression to orofacial clefting, a genetic study of PTCH was undertaken in cases with cleft lip and/or palate (CL/P) known not to have nevoid basal cell carcinoma syndrome. RESULTS:Seven new normal variants spread along the entire gene and three missense mutations were found among cases with cleft lip and/or palate. One of these variants (P295S) was not found in any of 1188 control samples. A second variant was found in a case and also in 1 of 1119 controls. The third missense (S827G) was found in 5 of 1369 cases and in 5 of 1104 controls and is likely a rare normal variant. Linkage and linkage desequilibrium also was assessed using normal variants in and adjacent to the PTCH gene in 220 families (1776 individuals), each with two or more individuals with isolated clefting. Although no statistically significant evidence of linkage (multipoint HLOD peak = 2.36) was uncovered, there was borderline evidence of significant transmission distortion for one haplotype of two single nucleotide polymorphisms located within the PTCH gene (p = .08). CONCLUSION:Missense mutations in PTCH may be rare causes of isolated cleft lip and/or palate. An as yet unidentified variant near PTCH may act as a modifier of cleft lip and/or palate.
journal_name
Cleft Palate Craniofac Jjournal_title
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Associationauthors
Mansilla MA,Cooper ME,Goldstein T,Castilla EE,Lopez Camelo JS,Marazita ML,Murray JCdoi
10.1597/04-169r.1keywords:
subject
Has Abstractpub_date
2006-01-01 00:00:00pages
21-9issue
1eissn
1055-6656issn
1545-1569pii
04-169Rjournal_volume
43pub_type
杂志文章abstract：OBJECTIVE:Describe the surgical repositioning of the premaxilla using an innovative minimally invasive endonasal approach and secondary bone graft at the same time. We want to emphasize the importance of virtual surgical planning in this technique. MATERIAL AND METHODS:A total of 6 patients with bilateral complete cle...
journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type： 杂志文章
doi：10.1177/1055665618791706
更新日期：2019-04-01 00:00:00
abstract：OBJECTIVE:To investigate whether reported parental concern is supported by hearing assessment findings in children with cleft palate. To describe this population by examining the relationship between cleft type, middle ear status, and hearing loss. DESIGN:Retrospective consecutive case note review. SETTING:Tertiary i...
journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type： 杂志文章
doi：10.1177/1055665619899743
更新日期：2020-07-01 00:00:00
abstract：OBJECTIVES:To develop an assessment tool for use in intercenter audit studies of cleft speech and to test its acceptability, validity, and reliability. The tool is to be used systematically to record and report speech outcomes, providing an indication of treatment needs and continuing burden of care. SETTING:Regional ...
journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type： 杂志文章
doi：10.1597/04-141.1
更新日期：2006-05-01 00:00:00
abstract：OBJECTIVE:The assessment of the posterior pharyngeal vasculature in velocardiofacial syndrome has been traditionally based on endoscopic visualization of pulsations or conventional angiography. This case report describes the utility of presurgical imaging with magnetic resonance angiography (MRA) prior to performing ph...
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_0266_mrafpa_2.3.co_2
更新日期：1997-05-01 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：:Objectives : We herewith report the case of a 43-year-old patient who experienced a skull base fracture associated with minimal trauma. The computed tomography scan examination showed unusual extensive pneumatization of the skull base. This patient used to perform repeated Valsalva maneuvers on a daily basis sin...
journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type： 杂志文章
doi：10.1597/11-280
更新日期：2013-01-01 00:00:00
abstract：:The historical and clinical basis for classification of Freeman-Sheldon syndrome as a craniofacial syndrome and explanation of the rationale underlying this decision is provided. Correctly classifying the condition will avoid confusion and may help to clarify the vernacular employed and eventually aid in improving dia...
journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type： 信件
doi：10.1177/1055665617753482
更新日期：2018-05-01 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：:This article presents a technique for the fabrication of a modified nasoalveolar molding appliance using 0.032-inch titanium-molybdenum alloy wire for nasal stents incorporating a "double loop." The nasal stents are included in the acrylic molding plate at the time of appliance insertion. The acrylic retention button ...
journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type： 杂志文章
doi：10.1597/13-065
更新日期：2013-07-31 00:00:00
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：OBJECTIVES:Digit ratio (2D:4D) has been considered to be a marker in studies evaluating an individual's susceptibility to diseases, especially those diseases that show sex differences in their occurrence. We aimed to assess whether 2D:4D ratios are associated with nonsyndromic cleft lip and/or palate (NSCL/P) and verif...
journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type： 杂志文章
doi：10.1597/15-266
更新日期：2017-09-01 00:00:00
abstract：OBJECTIVE:A number of surgical techniques are utilized to correct the unilateral cleft lip, including variations of the rotation-advancement technique. This attests to the variability of the original deformity and the esthetic and functional results from any one technique, especially those based on traditional geometri...
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_2000_037_0335_uclrso_2.3.co_2
更新日期：2000-07-01 00:00:00
abstract：BACKGROUND:Psychological adjustment to cleft lip/palate is multifaceted and can fluctuate over time and across different situations. Consequently, a comprehensive understanding of adjustment is difficult to capture, and the challenge of achieving consensus among researchers and clinicians regarding key constructs and p...
journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type： 杂志文章
doi：10.1597/15-071
更新日期：2016-07-01 00:00:00
abstract：OBJECTIVE:To propose a prospective registry for distraction osteogenesis research. RESULTS:The search strategy identified 82 reports, of which 11 were review articles, 17 were animal studies, 5 were theoretical models, and 49 were case reports/series. CONCLUSIONS:So far, the literature concerning distraction osteogen...
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：10.1597/1545-1569_2002_039_0641_easdmi_2.0.co_2
更新日期：2002-11-01 00:00:00
abstract：OBJECTIVE:Natal/neonatal teeth are very common in children with complete unilateral and bilateral cleft lip and palate. The extraction of these teeth is the usual treatment in the Hospital for Rehabilitation of Craniofacial Anomalies. The objective of this study was to verify whether these teeth could be of the normal ...
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_0406_eopdic_2.3.co_2
更新日期：2000-07-01 00:00:00
abstract：OBJECTIVE:A meta-analysis was performed to estimate the association between maternal cigarette smoking and the risk of having a child with a nonsyndromic oral cleft (NSOC). DESIGN:Studies published from 1966 through 1996 were retrieved using MEDLINE, Current Contents, bibliographies, and other sources. MEDLINE and Cur...
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：10.1597/1545-1569_1997_034_0206_mcsaoc_2.3.co_2
更新日期：1997-05-01 00:00:00
abstract：OBJECTIVE:To describe subtle nasal deformities and microform cleft lips in parents whose children have complete cleft lip deformities. DESIGN:Clinical analyses of three parents whose children had complete cleft lips. Subtle nasal deformities and microform cleft lips were identified. SETTING:An institutional general h...
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_0139_ndamcl_2.3.co_2
更新日期：1999-03-01 00:00:00
abstract：OBJECTIVE:To assess how faces with a cleft lip and palate are perceived and to study how faces with and without a unilateral cleft lip and palate are viewed by individuals with a unilateral cleft lip and/or palate in comparison to nonaffected controls. DESIGN:Prospective clinical study. SETTING:Department of Orthodon...
journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type： 杂志文章
doi：10.1597/08-244
更新日期：2011-03-01 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：BACKGROUND:Cleft in the lip and/or the palate (CL/P) is considered to be a lifelong condition, yet relatively little is known about the long-term outcomes for patients. Existing literature is largely outdated and conflicted, with an almost exclusive focus on medical aspects and deficits. OBJECTIVE:To explore the psych...
journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type： 杂志文章
doi：10.1597/14-178
更新日期：2015-09-01 00:00:00
abstract：OBJECTIVE:This study examined the relationships between skeletal deformities and the pharyngeal airway of patients with nonsyndromic unilateral cleft lip and palate (UCLP). DESIGN:Retrospective study. SETTING:Orthodontics and Oral and Maxillofacial Surgery Departments in the Affiliated Hospital of Stomatology, Nanjin...
journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type： 杂志文章
doi：10.1177/1055665619860700
更新日期：2020-01-01 00:00:00
abstract：OBJECTIVE:To identify demographic and reproductive risk factors for hemifacial microsomia in offspring. DESIGN:In a case-control study, maternal interviews were conducted within 3 years after delivery. Cases with hemifacial microsomia were ascertained from craniofacial centers in 26 cities in the United States and Can...
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：10.1597/03-110.1
更新日期：2004-09-01 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: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：: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：:To understand the etiology of maxillary hypoplasia better, which is common in individuals with cleft palate and other craniofacial anomalies, the relative growth and contribution of the maxillary and palatine segments to enlargement of the hard palate was examined in rhesus monkeys. The purpose of the study was to ide...
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_0302_dgacot_2.3.co_2
更新日期：1993-05-01 00:00:00
abstract：OBJECTIVES:Reviews of the quality of reporting of randomized controlled trials (RCTs) have recently been conducted in different surgical specialties. In this review of RCTs relating to cleft lip, cleft palate, and cleft lip and palate (CL/P), we investigate the quality of reporting against the Consolidated Standards of...
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：10.1597/14-267
更新日期：2017-03-01 00:00:00
abstract：:The influence of the periosteum on the regeneration of palatal bone was investigated in this study. Eighty, 8-week-old, purebred beagle dogs were assigned randomly to four groups: (1) unoperated dogs as a group control; dogs in which the mid-third of the palate was surgically removed and (2) left unrepaired (unrepaire...
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_0228_piropd_2.3.co_2
更新日期：1995-05-01 00:00:00
abstract：:G.A. Ilizarov's clinical insights and experimental biology have developed into what is known today as distraction osteogenesis. Initially used for the treatment of fractures and nonunions, his methods have proven successful for limb lengthening and bone transportation. A brief history of the development of distraction...
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_1994_031_0473_eacewd_2.3.co_2
更新日期：1994-11-01 00:00:00
abstract：:To overcome the difficulty of obtaining adequate videofluoroscopic images with small children because of lack of cooperation and their inability to keep their heads still and correctly rotated, a 3D View-Master was attached to the x-ray table. Its use greatly increased the ability to conduct lateral videofluoroscopies...
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_0134_lvamta_2.3.co_2
更新日期：1994-03-01 00:00:00
