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 prevalence of palatal anomalies in this population. DESIGN:We retrospectively reviewed the records of 51 patients with SCS seen at Children's Hospital Boston over the past 30 years. Palatal findings in our patients were compared with those in the literature. To illustrate the phenotypic variability in SCS, we describe an unusual infant who presented for evaluation of cleft palate and blepharoptosis. Her father had only blepharoptosis; this was the clue to the diagnosis, which was confirmed by finding a deletion in the TWIST gene. RESULTS:In our patients, high-arched palate was noted in 43%, bifid uvula in 10%, and cleft palate in 6%. These figures differed slightly from the combined percentages in published reports: 24% with high-arched palate, 2% with bifid uvula, and 5% with cleft palate. CONCLUSIONS:Palatal anomalies are relatively common in SCS. This entity should be considered in the differential diagnosis of a child with cleft palate, particularly in the presence of blepharoptosis, nasal deviation, and limb abnormalities in the patient or in family members.
journal_name
Cleft Palate Craniofac Jjournal_title
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Associationauthors
Stoler JM,Rogers GF,Mulliken JBdoi
10.1597/08-088.1subject
Has Abstractpub_date
2009-05-01 00:00:00pages
280-4issue
3eissn
1055-6656issn
1545-1569pii
08-088journal_volume
46pub_type
杂志文章abstract:OBJECTIVE:To report a case of blepharo-cheilo-dontic (BCD) syndrome, to compare with the previous cases, and to discuss the possible treatment. PATIENT:The patient was a 14-day-old boy born uneventfully on August 7, 2002. His scalp hair was sparse and curly. A tumor on the top of his head, which was thought to be a de...
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:10.1597/04-200.1
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVE:Microform cleft lip (MCL), also known as congenital healed cleft lip, is a rare anomaly that is thought to be a spontaneously healed variant of the more common clefting of lip and palate. Although conventional clefting is known to be associated with congenital heart disease (CHD), MCL has not been similarly a...
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_0596_chdiap_2.0.co_2
更新日期:2000-11-01 00:00:00
abstract::Relationships between the width of the palatal cleft measured at palatoplasty and the craniofacial morphology or the occlusal conditions present at approximately 4 years of age were studied in 25 cleft palate (CP) and 39 complete unilateral cleft lip and palate (UCLP) subjects treated at the Dental Clinic of Kyushu Un...
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_0175_rbcsad_2.3.co_2
更新日期:1993-03-01 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::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:Children with cleft lip and palate are reported to be commonly associated with higher prevalence of dental anomalies such as hypodontia, supernumeraries, and abnormalities in tooth size, shape, and position. This study investigated the prevalence of dental anomalies in a longitudinal cohort of children with u...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665617750489
更新日期:2018-04-01 00:00:00
abstract:OBJECTIVE:Diminished maxillary growth is a consequence of labiopalatal repair, and many patients with cleft lip and palate require Le Fort I advancement. The goal of this study was to determine the frequency of maxillary hypoplasia as measured by need for Le Fort I. SUBJECTS:Retrospective cohort study of males born be...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/06-075.1
更新日期:2007-07-01 00:00:00
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::Paracetamol is the most commonly used analgesic after cleft palate repair. It has rarely caused acute hepatic failure at therapeutic or supratherapeutic doses. Only one case of therapeutic paracetamol toxicity after cleft palate repair had been reported previously. Here, we present a similar patient who developed acut...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/14-319
更新日期:2015-09-01 00:00:00
abstract::Age-related growth changes in the nasolabial region were analyzed through six measurements taken between 1 year and 18 years of age in 1,593 North American Caucasians. By 1 year of age, the length of the cutaneous portion of the upper lip and the width of the nose showed the highest levels of development compared with...
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_0318_gpotnr_2.3.co_2
更新日期:1992-07-01 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: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 determine the percentage of patients with complete unilateral cleft lip and palate and complete bilateral cleft lip and palate treated at SickKids since birth who would benefit from orthognathic surgery. DESIGN:Retrospective cohort study. SUBJECTS:The review comprised records of 258 patients with complet...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/08-176.1
更新日期:2009-09-01 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: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:OBJECTIVE:We present an audit of primary cleft palate surgery at our unit, including rates of oronasal fistula development, speech outcomes, and rates of velopharyngeal insufficiency requiring secondary surgery. DESIGN:A retrospective study of patients with all cleft palate types, born between January 1990 and Decembe...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/06-205.1
更新日期:2008-03-01 00:00:00
abstract:OBJECTIVE:This report describes the design and printing of personalized nasal stents for cleft lip using 3-dimensional (3D) technology. MATERIALS AND METHODS:We used silicone rubber to make the impressions, a 3D laser scanner to obtain 3D data, and Dental SG resin cartridges as printing material. We printed the person...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618782804
更新日期:2019-04-01 00:00:00
abstract:OBJECTIVE:To investigate consonant production at 12 and 18 months of age following early soft palate repair in infants with unilateral cleft lip and palate (UCLP), and to compare it with typically developing children without clefts. DESIGN:Randomized study with comparison group. PARTICIPANTS:Twenty Swedish infants bo...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章,随机对照试验
doi:10.1597/09-105
更新日期:2011-05-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to determine the success rate of costochondral bone grafts used to replace absent or nonfunctioning temporomandibular joints and the subsequent growth of these grafts when placed in young children. DESIGN:This is a retrospective study of all cases with adequate follow-up records...
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_0334_cgrtmc_2.3.co_2
更新日期:1999-07-01 00:00:00
abstract::Experimental rabbit models of postnatal coronal suture (CS) synostosis have helped make significant contributions towards the understanding and surgical management of human congenital craniosynostosis. The present study compares craniofacial growth patterns in animals with experimental CS immobilization and in a rabbi...
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_0121_cbcssi_2.3.co_2
更新日期:1993-03-01 00:00:00
abstract::Changes to the velum and velopharyngeal muscles following Furlow double-opposing Z-plasty in a 7-year-old female with submucous cleft palate and velopharyngeal dysfunction (VPD) were evaluated. Perceptual, instrumental (ie, nasometry and aerodynamic pressure flow), and research magnetic resonance imaging analyses were...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618787688
更新日期:2019-04-01 00:00:00
abstract::Two cases are presented that show increased loudness as contributory to the occurrence of audible posterior nasal turbulence as an obligatory symptom. Case 1 was an 18-month-old boy with repaired cleft palate who exhibited sporadic posterior nasal turbulence with velar flutter that was associated with increased loudne...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665617730366
更新日期:2018-02-01 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::Biosynthetic activity of the mesenchymal cells within the palatal shelves was determined during cleft palate formation induced by 5-fluoro-2-deoxyuridine (FUDR). The palatal shelves of 30 fetal rat heads with palatal clefts were surveyed at stages corresponding to normal palatogenesis, nucleolar organizer region (NOR)...
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_0395_mcadfd_2.3.co_2
更新日期:1996-09-01 00:00:00
abstract:OBJECTIVE:To identify the effects of palate repair on cranial base and maxillary morphology in patients with unilateral cleft lip and palate (UCLP) and to discover the relevance between cranial base and maxilla through cephalometric analysis. DESIGN:Retrospective. PATIENTS:Thirty-seven UCLP patients with operated lip...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618768544
更新日期:2018-11-01 00:00:00
abstract::This introductory article summarizes and comments on a group of four papers based in part on a panel discussion of craniosynostosis (CS) held at the 53rd annual meeting of the American Cleft Palate-Craniofacial Association. The purpose of this panel was to review the differential diagnosis of CS and the evidence for i...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/1545-1569_1998_035_0190_citdam_2.3.co_2
更新日期:1998-05-01 00:00:00
abstract:BACKGROUND:Previous studies have investigated psychosocial adjustments among adolescents with cleft lip and/or palate (CL/P), but our understanding of other craniofacial conditions remains limited. The objective of this study is to compare psychosocial adjustments among 3 groups of adolescents: craniofacial conditions ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665619888308
更新日期:2020-05-01 00:00:00
abstract:OBJECTIVE:This study compares the change in midface position following Le Fort III advancement using either rigid external distraction (group 1) or internal distraction (group 2). We hypothesized that, with reference to right-facing cephalometry, internal distraction would result in increased clockwise rotation and inf...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665617754460
更新日期:2018-05-01 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::Pai syndrome is a rare congenital disorder, and there are few reports about the long-term prognosis of mental development and surgical results. Here, we report a patient with Pai syndrome who was followed up from birth up to the age of 8 years. Additionally, we review 32 articles and discuss the long-term prognosis 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:10.1177/1055665618771419
更新日期:2019-02-01 00:00:00