Abstract:
:Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is a craniosynostosis syndrome inherited in an autosomal dominant manner. Although similar to the other craniosynostosis syndromes in its clinical presentation, this syndrome is caused by a mutation in the TWIST1 gene. The TWIST1 gene product is a transcription factor containing a basic helix-loop-helix (bHLH) domain important in the development of the head and limbs. Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal septum, broad great toes, clinodactyly, and syndactyly. We report a young girl with clinical features of Saethre-Chotzen syndrome who has a previously undescribed sequence variant in the TWIST1 gene, corresponding to p.R191M. The location of the altered amino acid in the Twist-box of TWIST1, the high conservation of this amino acid between different species, and the phenotype of the child all support a pathogenic role for this novel TWIST1 sequence alteration.
journal_name
Cleft Palate Craniofac Jjournal_title
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Associationauthors
Peña WA,Slavotinek A,Oberoi Sdoi
10.1597/07-202.1subject
Has Abstractpub_date
2010-05-01 00:00:00pages
318-21issue
3eissn
1055-6656issn
1545-1569pii
07-202journal_volume
47pub_type
杂志文章abstract::Congenital microstomia in the newborn can result in poor functional and aesthetic outcomes. In the past, treatment options have included surgical methods such as commissurotomies and z-plasties as well as nonsurgical treatments using oral splints. In severe microstomia, a surgical release may be required to permit spl...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/10-114
更新日期:2012-05-01 00:00:00
abstract::The following report highlights the discussions and interaction at the workshop on craniofacial morphogenesis, sponsored by The Human Frontier Science Program, held in April 1993 at the University of Iowa. A brief summary of selected sessions is included to exemplify the benefits of bringing together individuals from ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type:
doi:10.1597/1545-1569_1994_031_0230_cmwr_2.3.co_2
更新日期:1994-05-01 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 analyze congenital lateral maxillary growth for patients with bilateral cleft lip and palate (BCLP). DESIGN:A retrospective study. SETTING:Kanagawa Children's Medical Center. MATERIALS:Images from computed tomography (CT) of patients with BCLP and control patients that were previously used for treatment...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665619874979
更新日期:2020-03-01 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:OBJECTIVE:A critical appraisal of cleft care in the United Kingdom. DESIGN:Retrospective comparative study. SETTING:All National Health Service cleft centers in the United Kingdom. PATIENTS/PARTICIPANTS:Children born with unilateral complete clefts of the lip and palate between April 1, 1982, and March 31, 1984 (12-...
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:10.1597/1545-1569_2001_038_0038_clapci_2.0.co_2
更新日期:2001-01-01 00:00:00
abstract:OBJECTIVE:To evaluate dental arch relationships and dimensions, relative to an age matched noncleft sample, in Caucasian 3-year-old children with repaired unilateral cleft lip (UCL) or unilateral cleft lip and palate (UCLP). DESIGN:Prospective, cross-sectional, case-control study performed in Scotland, U.K. PARTICIPA...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/03-159.1
更新日期:2005-07-01 00:00:00
abstract:OBJECTIVE:The 677C-->T allele in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of nonsyndromic cleft lip and palate (CL/P). This study involved a family-based association study of the MTHFR polymorphism. PATIENTS/PARTICIPANTS:We examined 181 patients with CL/P of central...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/06-174
更新日期:2008-05-01 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: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::This paper reviews the changes of adolescence that affect neuroendocrine and neurophysiologic functions. Normal variability in onset and progression of pubertal stages is discussed. The effects of hypothalamic and pituitary maturation and resulting changes in circulating hormone levels at the onset of secondary sexual...
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_1995_032_0096_nancoa_2.3.co_2
更新日期:1995-03-01 00:00:00
abstract:OBJECTIVE:To assess the symmetry of the mesiodistal angulations of maxillary and mandibular teeth in patients with unilateral cleft lip and palate (UCLP) and compare with the class I control group without cleft lip and palate (CLP). DESIGN:A retrospective study. SETTING:University department. PATIENTS, PARTICIPANTS:...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665620967534
更新日期:2020-10-28 00:00:00
abstract:OBJECTIVE:The purpose of this study was to assess the effect of ventilation tube (VT) placement on long-term hearing outcomes in children with cleft palate. STUDY DESIGN:Case series with chart review. SETTING:Genetic and dysmorphology database at Rady Children's Hospital-San Diego (RCHSD). PATIENTS:Children with cle...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/15-349
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVE:To determine the treatment outcome based on dentoalveolar relationships among Malay children born with nonsyndromic complete unilateral cleft lip and palate (UCLP). DESIGN:Retrospective cohort study. SETTING AND SAMPLE POPULATION:The Department of Orthodontics at the School of Dental Science and the Reconst...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/07-210.1
更新日期:2009-05-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to examine the microbiological changes in newborn babies with cleft lip palate from birth up to age 3 and to correlate them with their caries levels and mothers' microbiological data and to compare with normal infants. BASIC RESEARCH DESIGN:Prospective. SETTINGS:Marmara University,...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618776428
更新日期:2019-03-01 00:00:00
abstract:INTRODUCTION:Cleft lip and palate (CLAP) are the most common craniofacial anomalies and birth defects globally. Despite the fact that a tertiary care registry of clefts has existed in Kuwait since 2008, to date there is no published data regarding the prevalence of orofacial clefts in this population. OBJECTIVE:To tab...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618766059
更新日期:2018-11-01 00:00:00
abstract::The use of a tongue flap for treatment of palatal fistulae is a well-established procedure, but it is not without complication. We report on a patient who underwent palatal fistula closure with tongue flap as a child, who then developed a nasal papilloma from the mucosa of the tongue flap 40 years later. This case is ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/11-056
更新日期:2013-07-01 00:00:00
abstract::A table comparing the number of syndromes with orofacial clefting for the years 1971, 1978, and 1990 is presented and discussed. Over 300 such disorders are known today. A second table is presented showing the frequency of associated anomalies with orofacial clefting. The wide range of frequencies found in various stu...
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_0119_sdioc_2.3.co_2
更新日期:1991-01-01 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::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: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:Many charitable organizations conduct overseas missions to correct cleft lip and palate where surgical care is unavailable. However, little is known about cultural and societal attitudes regarding the cleft deformity. METHOD:A 15-item questionnaire was designed to elicit from parents general knowledge concer...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/04-003.1
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:This study aims to present the pattern and management of atypical facial clefts from a Nigerian population. DESIGN:This is a retrospective study of patients seen during series of surgical outreach programs in North Central Nigeria, between 2011 and 2017. All cases of atypical facial clefts encountered were e...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618790884
更新日期:2019-04-01 00:00:00
abstract::The present study, part of an ongoing investigation of normal and dysmorphic development of the human fetal oronasal capsule, examined the rate of growth of the vomer. For comparative purposes, 29 human fetal specimens (20 "normal" and 9 cleft lip and palate [CLP]) were celloidin embedded, sectioned, stained with hema...
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_0038_grotvi_2.3.co_2
更新日期:1992-01-01 00:00:00
abstract::Median cleft lip is a midline vertical cleft through the upper lip in the absence of a prolabial remnant. This may occur as a sporadic event or be part of an inherited sequence of anomalies. A failure of formation or fusion of the medial nasal prominences derived from the frontonasal prominence is ultimately responsib...
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_0094_mcotli_2.3.co_2
更新日期:1993-01-01 00:00:00
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 auto...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665619880401
更新日期:2020-04-01 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
abstract::We describe a case of the combined use of acellular dermal matrix and pedicled buccal fat pad (BFP) in a wide U-shaped cleft palate repair. Acellular dermal matrix was used as a "patch" repair for the nasal mucosa defect as opposed to the conventional inlay graft. The advantages include reduced cost and a smaller avas...
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:10.1177/1055665619851915
更新日期:2019-11-01 00:00:00
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 i...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/05-060.1
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVE:To evaluate postoperative pain, hospital length of stay (LOS), and associated costs of multiple perioperative analgesic strategies following alveolar bone grafting (ABG). DESIGN:Retrospective comparative cohort study. SETTING:Tertiary care pediatric hospital. PATIENTS/PARTICIPANTS:Iliac crest bone graft (I...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618791943
更新日期:2019-04-01 00:00:00