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 pattern and embryonic lethality for males. Radiculomegaly of canines is the most consistent finding in these patients. In this report we present a female patient with characteristic facial features, as well as a comprehensive overview of oculofaciocardiodental syndrome. Diagnosis of oculofaciocardiodental syndrome in this patient was verified by genetic analysis, during which we found a novel mutation in BCOR.
journal_name
Cleft Palate Craniofac Jjournal_title
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Associationauthors
Davoody A,Chen IP,Nanda R,Uribe F,Reichenberger EJdoi
10.1597/10-256subject
Has Abstractpub_date
2012-09-01 00:00:00pages
e55-60issue
5eissn
1055-6656issn
1545-1569journal_volume
49pub_type
杂志文章,评审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::Craniopagus twins are a rare phenomenon and present numerous challenges in separation. Due to the paucity of data, it is paramount to evaluate outcomes based on case studies to continue improving medical and surgical management of these patients. We present a case report of craniopagus twins cared for by the senior au...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618811534
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:Nonsyndromic cleft lip/palate (NSCLP) has the characteristics of a complex genetic trait. Linkage and association studies have suggested that one or more clefting loci may be located on chromosome 4q. The goal of this study was to evaluate the possible linkage and association due to linkage disequilibrium bet...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/03-160.1
更新日期:2005-05-01 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: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::Congenital fenestration of the secondary palate is the rarest type of facial cleft. Of the 26 putative cases in the literature, only 5 had confirmation of the cleft during the neonatal period. This report documents such a cleft in an infant and presents the likely pathogenesis. ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/05-013.1
更新日期:2006-05-01 00:00:00
abstract::Midface hypoplasia in a 5-year-old boy with Crouzon syndrome was treated using a rigid external distraction device. Seven months prior to this surgery, a bone allograft was used during frontal-orbital bar advancement. Three weeks after the Le Fort III distraction a depression fracture was diagnosed, associated with an...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/07-021.1
更新日期:2008-05-01 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::This study examined ratings regarding satisfaction with facial appearance and speech performance from 495 parent-child pairs. Data were obtained from school-aged children (5-18 years old) and their parents using standardized independent interviews. Results revealed that 54 percent of the children with cleft lip (CL) o...
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_0262_hopwcp_2.3.co_2
更新日期:1992-05-01 00:00:00
abstract::Cleft of the palate and congenital anomaly of the tongue is a rare occurrence. A child with the tongue in three segments is being presented for the first time in the literature. This child also had partial cleft palate. The cleft palate was repaired at 7 months of age, and the tongue was reconstructed at 15 months. Th...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/13-117
更新日期:2014-11-01 00:00:00
abstract::A review of the studies of the caries prevalence and periodontal health of patients with cleft lip and palate (CLP) revealed that only five investigations of caries prevalence in CLP patients included children. One reported that CLP children did not have a higher caries prevalence in the permanent dentition, whereas m...
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_1998_035_0248_tohocw_2.3.co_2
更新日期:1998-05-01 00:00:00
abstract:OBJECTIVE:To describe the different myoplasty techniques that could be used for limited commissural reconstruction. METHODS:Twelve cases of congenital macrostomia are reported, with different cleft lengths and termination sites. For each case, an orbicular myoplasty was performed, and in the case of extension to the a...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/05-190.1
更新日期:2008-03-01 00:00:00
abstract:OBJECTIVE:This study asked selected mature individuals with Moebius syndrome to discuss the sources of strength and resiliency that allowed them to achieve professional and personal success. DESIGN:Adults with Moebius syndrome were selected in a nonrandom manner based primarily on their affiliation with the Moebius Sy...
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_0231_rasiaw_2.0.co_2
更新日期:2001-05-01 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: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:BACKGROUND:Management of a cleft of the lip and/or palate (CL/P) involves a multidisciplinary team approach lasting from birth to potentially postskeletal maturity. This condition is complex, with both medical and psychosocial implications that may place individuals with a cleft at higher risk of developing psychosocia...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618769660
更新日期:2019-02-01 00:00:00
abstract:BACKGROUND:The Alexis retractor is a device that provides simultaneous radial retraction and wound protection during surgical procedures. Although typically used in abdominal and pelvic surgeries, there has been increased development of novel operative techniques utilizing the Alexis retractors in head and neck surgeri...
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:10.1177/1055665619900833
更新日期:2020-05-01 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:BACKGROUND:Recognition of the challenges inherent in psychology research related to cleft lip and/or palate (CL/P) and other craniofacial anomalies (CFAs) is far from novel; yet these challenges continue to limit progress within the field. The aim of the present article was to illustrate these challenges by utilizing d...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618769661
更新日期:2019-01-01 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:To investigate the stresses and strains of an endosseous dental implant in patients with different types of cleft palate in a finite element model. MATERIALS AND METHODS:Seven three-dimensional (3D) maxillary models were designed on a personal computer according to computed tomography slice data obtained fro...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/04-091r1.1
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:This study was conducted to determine whether development of individual maxillary teeth in subjects with complete unilateral alveolar clefts was significantly different from that found in unaffected children. DESIGN:Retrospective, mixed longitudinal. SETTING:Craniofacial Center, university based. MATERIALS...
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_0320_mddicu_2.3.co_2
更新日期:1998-07-01 00:00:00
abstract:OBJECTIVE:Ophthalmic abnormalities in children with syndromic craniosynostosis have been reported previously, and referral of these children to a pediatric ophthalmologist is recommended. However, it is not as clear whether a child with nonsyndromic synostosis needs to be referred to a pediatric ophthalmologist. The ai...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/14-212
更新日期:2016-01-01 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: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::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:The purpose of this study was to assess the cardiac evaluation of cleft lip and/or palate patients, characterize their cardiovascular malformations, and determine the impact of cardiovascular malformations on surgical management. DESIGN:A single-institution retrospective study of 329 consecutive cleft patien...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/12-131
更新日期:2013-05-01 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::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:To analyze the morphology of the maxillary crest in infants with Pierre Robin sequence using an anthropometric coordinate system and to compare the data with those of healthy infants. SETTING:The study was performed at a craniofacial center servicing a large geographic area. PARTICIPANTS:The study involved ...
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_0292_tdcmot_2.3.co_2
更新日期:2000-05-01 00:00:00