当前位置： SCI文献检索 > CLEFT PALATE-CRANIOFACIAL JOURNAL期刊下所有文献 > Subphenotyping and Classification of Orofacial Clefts: Need for Orofacial Cleft Subphenotyping Calls for Revised Classification.

Subphenotyping and Classification of Orofacial Clefts: Need for Orofacial Cleft Subphenotyping Calls for Revised Classification.

Abstract：

:Nonsyndromic orofacial clefting (OFC) describes a range of phenotypes that represent the most common craniofacial birth defects in humans, with an overall birth prevalence of 1:700 live births. Because of the lifelong negative implications on health and well-being associated with OFC and the numbers of people affected, quality research into its etiology, diagnosis, treatment outcomes, and preventative strategies is essential. A range of different methods is used for recording and classifying OFC subphenotypes, one of which is the International Classification of Diseases (ICD) system. However, there is a general perception that research is being hampered by a lack of sensitivity and specificity in grouping those with OFC into subphenotypes, with potential heterogeneity and confounding in epidemiologic, genetic, and genotype-phenotype correlation studies. This article provides a background to the necessity of OFC research, discusses current controversies within cleft subphenotyping, and provides a brief overview of current OFC classifications as well as their limitations. The LAHSHAL classification is described in the context of a potentially useful tool for OFC that could complement the ICD-10/ICD-11 Beta coding systems to become a simply understood, universally accepted, clinically friendly, and research-sensitive instrument. Empowering registries, clinicians, and researchers to use a common classification system would have significant implications for OFC research across the world at a time when accurate subphenotyping is crucial and health care research is becoming increasingly tailored toward the individual.

journal_name

Cleft Palate Craniofac J

journal_title

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

authors

McBride WA,McIntyre GT,Carroll K,Mossey PA

doi

10.1597/15-029

subject

Has Abstract

pub_date

2016-09-01 00:00:00

pages

539-49

issue

5

eissn

1055-6656

issn

1545-1569

journal_volume

53

pub_type

杂志文章

相关文献

CLEFT PALATE-CRANIOFACIAL JOURNAL文献大全
  • Sensitivity of a method for the analysis of facial mobility. I. Vector of displacement.

    abstract：OBJECTIVE:(1) To determine which facial landmarks show the greatest movement during specific facial animations and (2) to determine the sensitivity of our instrument in using these landmarks to detect putatively abnormal facial movements. DESIGN:Movements of an array of skin-based landmarks on five healthy human subje...

    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_0132_soamft_2.3.co_2

    authors： Trotman CA,Faraway JJ,Silvester KT,Greenlee GM,Johnston LE Jr

    更新日期：1998-03-01 00:00:00

  • Mechanical contraction property of the levator veli palatini muscle.

    abstract：:Twenty adult dogs anesthetized with sodium pentobarbital were used as experimental animals in an analysis of the mechanical contraction properties of the levator veli palatini muscle. The following results were obtained: the contraction time and half relaxation time of maximal isometric twitch of the muscle were revea...

    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_1991_028_0221_mcpotl_2.3.co_2

    authors： Kogo M,Inoue K,Matsuya T,Nishio J,Hamamura Y,Yasui Y,Miyazaki T

    更新日期：1991-04-01 00:00:00

  • Visual face perception of adults with unilateral cleft lip and palate in comparison to controls--an eye-tracking study.

    abstract：OBJECTIVE:To assess how faces with a cleft lip and palate are perceived and to study how faces with and without a unilateral cleft lip and palate are viewed by individuals with a unilateral cleft lip and/or palate in comparison to nonaffected controls. DESIGN:Prospective clinical study. SETTING:Department of Orthodon...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/08-244

    authors： Meyer-Marcotty P,Gerdes AB,Stellzig-Eisenhauer A,Alpers GW

    更新日期：2011-03-01 00:00:00

  • A Rare Orbital Complication of Eye Exodeviation With Limited Abduction During Monobloc Le Fort III Distraction Osteogenesis.

    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

    authors： Hariri F,Cheung LK,Rahman ZA,Ramasamy SN,Ganesan D

    更新日期：2015-07-01 00:00:00

  • Comparing Cephalic Index and Midsagittal Vector Analysis in Assessing Morphology in Sagittal Synostosis: A CT-Based Morphometric Analysis.

    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

    authors： Hong BY,Ho ES,Zellner E,Phillips JH,Forrest CR

    更新日期：2019-08-01 00:00:00

  • Eleven-Year Follow-Up of Craniopagus Twins After Unsuccessful Attempt at Separation: Are They Better Off?

    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

    authors： Harvey DJ,Vaca EE,Totonchi A,Gosain AK

    更新日期：2019-07-01 00:00:00

  • Ethical decision-making in interdisciplinary team care.

    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

    authors： Sharp HM

    更新日期：1995-11-01 00:00:00

  • Starting a Family: The Experience of Parents With Cleft Lip and/or Palate.

    abstract：BACKGROUND:One of the key challenges facing young adults with cleft lip and/or palate is making decisions about starting a family, because there is an increased likelihood of their own child being diagnosed with cleft lip and/or palate. Should this occur, a second key challenge is how to deal with their child's diagnos...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/13-314

    authors： Stock NM,Rumsey N

    更新日期：2015-07-01 00:00:00

  • National Estimates of and Risk Factors for Inpatient Revision Surgeries for Orofacial Clefts.

    abstract：OBJECTIVE:To provide national estimates of the number and cost of primary and revision cleft lip and palate surgeries in the U.S. and to determine patient and hospital characteristics associated with disproportionate use of revision surgery. DESIGN:Retrospective cross-sectional study using data obtained from the 2003,...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/15-206

    authors： Thompson JA,Heaton PC,Kelton CM,Sitzman TJ

    更新日期：2017-01-01 00:00:00

  • The Eurocleft study: intercenter study of treatment outcome in patients with complete cleft lip and palate. Part 3: dental arch relationships.

    abstract：OBJECTIVE:To compare dental arch relationships up to age 17 in individuals with complete unilateral cleft lip and palate (UCLP) treated at five European centers. DESIGN:Longitudinal cohort study, where results were previously reported at 9 years and follow-up measurements were obtained for 12 and 17 years. SETTING:Mu...

    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：10.1597/02-119.3.1

    authors： Mølsted K,Brattström V,Prahl-Andersen B,Shaw WC,Semb G

    更新日期：2005-01-01 00:00:00

  • Is it possible to prevent cleft palate by prenatal administration of folic acid? An experimental study.

    abstract：OBJECTIVE:In this study, folic acid was tested for its antiteratogenic effects on experimentally induced cleft palate in animals. DESIGN:Eleven pregnant Lew 1 A dams (75 fetuses) received 200 mg/kg procarbazine via gastric tubing on postconception (p.c.) day 14 to induce a cleft palate (CP); seven of the pregnant dams...

    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_0393_iiptpc_2.0.co_2

    authors： Bienengräber V,Malek FA,Möritz KU,Fanghänel J,Gundlach KK,Weingärtner J

    更新日期：2001-07-01 00:00:00

  • The Tessier number 5 facial cleft: surgical strategies and outcomes in six patients.

    abstract：:The Tessier no. 5 facial cleft is an extremely rare congenital malformation. Only 26 cases have been described in the English-language literature. The cleft begins in the upper lip just medial to the oral commissure, extending across the cheek as a groove ending at the junction of the middle and lateral thirds of the ...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/07-192.1

    authors： da Silva Freitas R,Alonso N,Shin JH,Busato L,Dall'Oglio Tolazzi AR,de Oliveria e Cruz GA

    更新日期：2009-03-01 00:00:00

  • Atypical Facial Clefts From Northcentral Nigeria, Review of 36 Cases.

    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

    authors： Bello SA,Ibikari AB,Oketade I,Balogun SA

    更新日期：2019-04-01 00:00:00

  • Sutureless skin closure for cleft lip repair.

    abstract：OBJECTIVE:To study the quality of scars following the use of butyl cyanoacrylate to close the skin during cleft lip repair. DESIGN:Nonrandomized prospective study. SETTING:Tertiary care hospital. PATIENTS:Patients (n = 104) with cleft lip and palate in combination of various degrees of cleft with the age group rangi...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/05-171

    authors： Mourougayan V

    更新日期：2006-11-01 00:00:00

  • Nasometer 6200 Versus Nasometer II 6400: Effect on Measures of Nasalance.

    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

    authors： Awan SN,Virani A

    更新日期：2013-05-01 00:00:00

  • Escobar Syndrome-An Multidisciplinary Approach for an Excellent Outcome With 3 Years of Follow-Up.

    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

    authors： Marques FBC,de Morais LS,Squeff LR,de Souza MMG,Bolognese AM

    更新日期：2019-08-01 00:00:00

  • Nasal deformity and microform cleft lip in parents of patients with cleft lip.

    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

    authors： Sigler A,Ontiveros DS

    更新日期：1999-03-01 00:00:00

  • Periodontal status and oral hygiene in two populations of cleft patients.

    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

    authors： Stec M,Szczepańska J,Pypeć J,Hirschfelder U

    更新日期：2007-01-01 00:00:00

  • The diamond vermilion flap--a new technique for vermilion augmentation in cleft lip repair.

    abstract：OBJECTIVE:In most cleft lips patients, the vermilion on the medial aspect of the repair is deficient in height. Not many surgeons have dealt with ways to augment the height of the vermilion at this location. In the unilateral cleft lip, the repair may include the insertion of a small triangular vermilion flap from the ...

    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_0123_tdvfan_2.3.co_2

    authors： Gur E,Zuker RM

    更新日期：2000-03-01 00:00:00

  • Functional abnormalities in the neural circuitry of reading in men with nonsyndromic clefts of the lip or palate.

    abstract：OBJECTIVE:The current study was designed to evaluate the neurobiology of reading in a group of men with nonsyndromic clefts of the lip or palate (NSCLP) compared with healthy controls by positron emission tomography. DESIGN:SUBJECTS included eight men with NSCLP compared with six healthy control men. By using radioact...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/05-043

    authors： Goldsberry G,O'Leary D,Hichwa R,Nopoulos P

    更新日期：2006-11-01 00:00:00

  • Global strategies to reduce the health care burden of craniofacial anomalies: report of WHO meetings on international collaborative research on craniofacial anomalies.

    abstract：:Although several significant research projects have arisen from international cooperation, especially in the field of genetics, these have been the exception rather than the rule. However, those of us who had the privilege and delight of participating in the World Health Organization meetings were struck by a common r...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 共识发展会议,杂志文章,评审

    doi：10.1597/03-214.1

    authors：

    更新日期：2004-05-01 00:00:00

  • Incidence of oronasal fistulae and velopharyngeal insufficiency after cleft palate repair: an audit of 211 children born between 1990 and 2004.

    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

    authors： Phua YS,de Chalain T

    更新日期：2008-03-01 00:00:00

  • Spontaneous Growth of the Palatal Plates in the Cleft Lip and Palate.

    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

    authors： Pontes F,Callegaris G,Freitas RDS

    更新日期：2020-12-29 00:00:00

  • Neuroendocrine and neurophysiologic changes of adolescence.

    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

    authors： Schaefer GB

    更新日期：1995-03-01 00:00:00

  • Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe.

    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

    authors： Reutter H,Birnbaum S,Lacava AD,Mende M,Henschke H,Bergé S,Braumann B,Lauster C,Schiefke F,Wenghoefer M,Saffar M,Reich R,Scheer M,Kramer FJ,Knapp M,Mangold E

    更新日期：2008-05-01 00:00:00

  • Lack of Association Between MTHFR, MTR, MTRR, and TCN2 Genes and Nonsyndromic CL±P in a Chinese Population: Case-Control Study and Meta-Analysis.

    abstract：:Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common congenital deformity, often associated with folate deficiency. The genes MTHFR, MTR, MTRR, and TCN2 play key roles in folate metabolism. The risk of NSCLP associated with particular variants in the folic acid pathway differs among ethnic groups. T...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章,meta分析

    doi：10.1597/14.067

    authors： Jiang C,Yin N,Zhao Z,Wu D,Wang Y,Li H,Song T

    更新日期：2015-09-01 00:00:00

  • Craniofacial anthropometry in a Turkish population.

    abstract：OBJECTIVE:To present norms and demonstrate the anthropometric variations in fronto-occipital circumference, inner and outer canthal distances, near and distant [far] anatomical interpupillary distance, canthal index, and circumference-interorbital index across age and sex in urban Turkish subjects. PARTICIPANTS:Three ...

    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_0208_caiatp_2.0.co_2

    authors： Evereklioglu C,Doganay S,Er H,Gunduz A,Tercan M,Balat A,Cumurcu T

    更新日期：2002-03-01 00:00:00

  • Two cases of axenfeld-rieger syndrome, report of the complex pathology and treatment.

    abstract：:The purpose of this case report is to report the orthodontic surgical treatment and subsequent dental rehabilitation in two patients with Axenfeld-Rieger syndrome. Axenfeld-Rieger syndrome is a rare autosomal dominant condition characterized by ocular, dental, craniofacial, and periumbilical abnormalities. The treatme...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/12-295

    authors： Bender CA,Koudstaal MJ,van Elswijk JF,Prahl C,Wolvius EB

    更新日期：2014-05-01 00:00:00

  • Comparison of the hearing histories of children with and without cleft palate.

    abstract：:Aggressive otologic management has been recommended for children with cleft palate because of the almost universal occurrence of otitis media with effusion (OME) in these children and the association of OME with hearing loss and possible language, cognitive, and academic delays. In this study, 28 children with cleft p...

    journal_title：The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

    pub_type： 杂志文章

    doi：10.1597/1545-1569_1996_033_0127_cothho_2.3.co_2

    authors： Broen PA,Moller KT,Carlstrom J,Doyle SS,Devers M,Keenan KM

    更新日期：1996-03-01 00:00:00

  • Parent questionnaire for screening early language development in children with cleft palate.

    abstract：:This study investigated the efficacy of a parent questionnaire as a component for screening early language development of children 16 to 30 months of age with cleft lip and palate. Thirty nonsyndromic children with cleft lip and palate and 30 children without clefts received the MacArthur Communicative Development Inv...

    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_0007_pqfsel_2.3.co_2

    authors： Scherer NJ,D'Antonio LL

    更新日期：1995-01-01 00:00:00