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:The Shprintzen-Goldberg syndrome is an extremely rare syndrome with a characteristic face. This is one of a group of disorders characterized by craniosynostosis and marfanoid features. The aim of this study was to present a new sporadic case of the syndrome and describe in detail the findings at the maxillofa...
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_0433_sscr_2.0.co_2
更新日期:2003-07-01 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:OBJECTIVES:To (1) audit dental arch relationships of all children born between 1982 and 1999 with complete unilateral cleft lip and palate (UCLP) treated at the Cleft Lip and Palate Unit, Princess Margaret Hospital for Children (PMH), Perth, Western Australia, (2) assess the distribution of GOSLON ratings from dental c...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/10-111
更新日期:2012-07-01 00:00:00
abstract:OBJECTIVE:Routine hospital admission following pharyngeal flap (PF) to correct velopharyngeal insufficiency (VPI) is the standard at most hospitals. Nevertheless, there is increasing resistance from third-party providers to approve stays longer than a "short stay" (23-hour) observation period. The purpose of the curren...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665617732776
更新日期:2018-03-01 00:00:00
abstract:OBJECTIVE:The Kay Pentax nasometer uses a separator plate that touches the philtrum of a patient to separate the nasal and oral sound energies for nasalance measurement. However, the separator plate can restrict the natural movement of the patient's upper lip and generate unpleasant pressure on the patient's philtrum. ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665620953340
更新日期:2020-09-14 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::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::Most clinical and ethical decisions are made between a patient and his or her physician. However, patients with complex or chronic medical problems are often cared for by a team of professionals from multiple disciplines. Little is known about the process of making ethical decisions between patients and teams of healt...
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_0495_edmiit_2.3.co_2
更新日期:1995-11-01 00:00:00
abstract:OBJECTIVE:This is a prospective study examining palatal casts from patients with unilateral cleft lip and palate (UCLP) in the first month of life, immediately before cheiloplasty, and immediately before palatoplasty. None of the patients receives presurgical orthopedics (nasoalveolar molding). DESIGN:In this prospect...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665620982789
更新日期:2020-12-29 00:00:00
abstract:OBJECTIVE:The purposes of this electromyographic study were to examine whether levator veli palatini muscle activity during speech can be changed with placement of a speech appliance and to clarify whether or not the change is related to the type of speech appliance used. DESIGN:Electromyography (EMG) was performed du...
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_0478_eopoas_2.0.co_2
更新日期:2000-09-01 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:To compare the dental arch relationships of Turkish patients with complete unilateral cleft lip and palate (UCLP) with the results reported for participants in the Eurocleft study. PATIENTS:Study models of 109 patients with complete UCLP from five university clinics in Turkey were evaluated (clinic A = 25 pa...
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:10.1597/11-304R1
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:To introduce a surgical technique for secondary alveolar bone grafting performed in conjunction with premaxillary osteotomy and guided tissue regeneration in children with bilateral clefts. This paper also looks at the outcomes of this surgery in a series of 15 consecutive patients. METHODS:Secondary alveola...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/06-032.1
更新日期:2007-09-01 00:00:00
abstract::Cleft lip and/or cleft palate defects often result in a functional deficiency in the patient's chewing, speech ability, and aesthetic appearance, usually demanding multidisciplinary effort for addressing the aesthetic and functional patient's requirements. This clinical report describes the planned oral rehabilitation...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665620946560
更新日期:2020-08-07 00:00:00
abstract::Objective : This study compared measures of nasalance obtained using the Nasometer 6200 versus the Nasometer II 6400 in typically speaking young adult males and females for the nonnasal Zoo Passage, the phonetically balanced Rainbow Passage, and the Nasal Sentences. Design : Participants read passages at a comfortab...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/11-219
更新日期:2013-05-01 00:00:00
abstract::Bone grafting of the alveolus is an essential step in the reconstruction of the orofacial cleft deformity. Secondary grafting with iliac marrow consistently produces trabecular bone to unify the maxilla and provide odontogenic support. It requires preoperative maxillary alignment, well designed mucoperiosteal flaps, a...
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_0229_moacbg_2.3.co_2
更新日期:2000-05-01 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:Distraction osteogenesis is a good technique to correct micrognathia and to prevent tracheostomy in patients with Pierre Robin sequence. However, the airway must be maintained during the distraction period. The purpose of this study was to determine the usefulness of temporary tongue-lip traction during the i...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/07-106.1
更新日期:2009-01-01 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:OBJECTIVE:To give an epidemiological description of the clinical entity given the name Pierre Robin sequence, defined by retro- and micrognathia, cleft palate, and respiratory distress and describe other malformations and possible intrauterine impairment. METHODS:Using the inclusion criteria of micrognathia, cleft pal...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/02-055
更新日期:2004-01-01 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: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: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::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::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: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 litera...
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:10.1597/05-008.1
更新日期:2006-03-01 00:00:00
abstract:BACKGROUND:Submucous cleft palate (SMCP) is the most common form of cleft involving the posterior palate, resulting in variable degrees of velar dysfunction and speech disturbance. Although early surgical intervention is indicated for patients with true cleft palate, the indications for palatoplasty and timing of surgi...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665617726989
更新日期:2018-03-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to determine the developments, morphometric features, and shapes of the maxillary and mandibular arches during the prenatal period in a large series of fetal material. METHODS:The study was carried out on 225 human fetuses aged between 8 and 40 weeks of gestation. General, ext...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/10-238
更新日期:2012-01-01 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::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