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 hemangiomatous cervical skin lesions with or without branchial sinuses; malformed, rotated auricles; and ocular abnormalities, which include microphthalmia or anophthalmia, coloboma, and cataract. The term pseudocleft has been used to describe the upper lip and philtrum abnormality found in mild cases, but the expression may extend to that of a complete cleft lip and palate. This unique disorder may go undetected in patients followed in cleft palate or craniofacial clinics and may not be recognized in patients with mild expressions. Genetic counseling for affected individuals is imperative because of the 50 percent recurrence risk. We emphasize the multidisciplinary care required to correct their craniofacial anomalies.
journal_name
Cleft Palate Craniofac Jjournal_title
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Associationauthors
Lin AE,Losken HW,Jaffe R,Biglan AWdoi
10.1597/1545-1569_1991_028_0096_tbofs_2.3.co_2subject
Has Abstractpub_date
1991-01-01 00:00:00pages
96-102issue
1eissn
1055-6656issn
1545-1569journal_volume
28pub_type
杂志文章,评审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: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 : The purpose of this cross-sectional study was to assess the prevalence of dental caries in children with cleft lip, alveolus, and/or cleft palate living in central Germany between 1996 and 2010. Participants : A total of 295 children 1 to 6 years of age from three birth cohorts (BC) with clefts from centra...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/12-106
更新日期:2014-05-01 00:00:00
abstract::Mandibular distraction osteogenesis is an increasingly accepted treatment option for severe upper airway obstruction in grade 3 Robin sequence. Complications are rarely reported but can include fracture, pin dislodgement, tooth bud damage, and temporomandibular joint ankylosis. Operative correction of these complicati...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/14-008
更新日期:2015-05-01 00:00:00
abstract::The adolescent patient provides a unique opportunity for the clinician to be both retrospective and prospective. While adolescence is a period of selective and rapid oral facial growth and dental arch development, the period of rapid speech development is long past. The adolescent patient is entering a period of quies...
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_0109_saoa_2.3.co_2
更新日期:1995-03-01 00:00:00
abstract::Objective : Submucous cleft palate (SMCP) is a congenital condition associated with abnormal development of the soft palate musculature. In a proportion of cases, this results in velopharyngeal insufficiency (VPI), the treatment for which includes pharyngeal flap surgery, pharyngoplasty, and palate reconstruction. The...
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:10.1597/13-046
更新日期:2014-11-01 00:00:00
abstract::The development of the dental arch is well designed for adaptive and compensatory growth. In this study, the relationship between the sleep position and dental arch development was investigated. A group of 42 infants with unilateral complete cleft lip and palate with either prone (16) or supine (26) sleep position wer...
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_0179_mdaabd_2.3.co_2
更新日期:1994-05-01 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 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:BACKGROUND:Mucous cysts of the nose are a rare complication of rhinoplasty. They may develop as a result of implantation or herniation of mucosa. The entrapped epithelium may proliferate, forming a subcutaneous cyst. PATIENTS AND METHODS:Two patients with unilateral cleft lip nose deformity had previously undergone co...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/08-236
更新日期:2010-11-01 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:INTRODUCTION:Assessment of cranial dysmorphism in sagittal synostosis is often subjective but objective measures can be applied. These include cephalic index (CI) and midsagittal vector analysis (MSVA). OBJECTIVE:To assess discriminant validity, construct validity, and responsiveness of CI and MSVA measured from compu...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618815400
更新日期:2019-08-01 00:00:00
abstract::Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/15-078
更新日期:2017-11-01 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:OBJECTIVE:Unfortunately, not all patients receive the benefits of a well-trained, experienced, multidisciplinary cleft team, and a significant number of patients reach adulthood with severe neglected cleft related problems. The vast majority of this group have made their way through several surgical procedures, usually...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/03-039.1
更新日期:2004-09-01 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::Lehman syndrome, or lateral meningocele syndrome, is characterized by facial dysmorphism, multiple lateral meningoceles, and skeletal abnormalities. Only nine cases have been described. We present a case of a 2-year-old boy presenting with micrognathia, glossoptosis, and hypertelorism as well as associated severe obst...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/13-063
更新日期:2015-05-01 00:00:00
abstract::We investigated how a new type of synthetic porous hydroxyapatite ceramic (HAP-TCP) acts when it is implanted in growing membranous bone. Seventy-six New Zealand White infant male rabbits (4-week-olds) were used. Rabbits received HAP-TCP block or silicone block implantation in their right nasal bone. The left nasal bo...
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_0282_osahtc_2.3.co_2
更新日期:1995-07-01 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::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:To investigate anatomical variations and abnormalities of cervical spine morphology in unoperated infants with cleft lip and palate. DESIGN:Retrospective cross-sectional investigation of infants born with nonsyndromic cleft lip and palate using computed tomography scans acquired for investigation of a spectr...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/05-023
更新日期:2006-09-01 00:00:00
abstract:OBJECTIVE:Two main objectives were established. First objective was to determine the prevalence of the cleft lip and/or cleft palate (CL/P) in Thailand from 2012 to 2015 using the orofacial clefts (OFCs) registry and civil registration. Second objective was to conduct a quality control of this OFC registry especially f...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665620987677
更新日期:2021-01-25 00:00:00
abstract::Ameloblastic carcinomas are rare malignant lesions with 3 mandibular pediatric cases reported in the literature. We present a case of ameloblastic carcinoma in situ in a 15-year-old male with a right mandibular cystic lesion on computed tomography. The incisional biopsy revealed plexiform ameloblastoma. Due to the inf...
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:10.1177/1055665618774021
更新日期:2019-01-01 00:00:00
abstract::This case report intends to provide the facial characteristics of Escobar syndrome and to describe the orthodontic treatment of a 12-year-old female patient diagnosed with it. Escobar syndrome, a variant of the multiple pterygium syndrome, is a rare disorder with many systemic, facial, and oral manifestations.The pati...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1177/1055665618823416
更新日期:2019-08-01 00:00:00
abstract:OBJECTIVE:To characterize Eustachian tube function using the forced response test in young children with cleft palate with or without cleft lip after palatoplasty with tympanostomy tubes inserted prepalatoplasty and compare these results with those of a 1986 study that evaluated a similar population using identical met...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/11-065
更新日期:2012-07-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to investigate whether reduced speech intelligibility in children with cleft palate affects social and personal attribute judgments made by typically developing children of different ages. DESIGN:The study (1) measured the correlation between intelligibility scores of speech s...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/15-088
更新日期:2017-05-01 00:00:00
abstract:OBJECTIVE:To evaluate and compare the oral hygiene and periodontal status in children with unilateral and bilateral cleft lip and palate treated in Łódź, Poland, and Erlangen, Germany. DESIGN:Oral health was assessed by the presence of dental plaque, pocket depth, clinical attachment levels, and pathologic teeth mobil...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/05-137
更新日期:2007-01-01 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:OBJECTIVE:To record maxillary and mandibular displacement with articular growth and in response to bimaxillary surgical repositioning in patients with hemifacial microsomia (HFM) and to observe ipsilateral corpus/ramus growth in severely affected children. DESIGN:Prospective roentgen stereometric analysis (mean age 7 ...
journal_title:The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
pub_type: 杂志文章
doi:10.1597/02-123.1
更新日期:2004-05-01 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