Classification, evaluation, and management of the neonate with a cleft

2021 ◽  
pp. 737-744
Author(s):  
David C.G. Sainsbury
Keyword(s):  
Parental Education ◽  
Cleft Lip ◽  
Antenatal Diagnosis ◽  
Supplemental Oxygen ◽  
Deletion Syndrome ◽  
Orofacial Clefts ◽  
Robin Sequence ◽  
Nasopharyngeal Airway ◽  
Important Means ◽  
Classification Evaluation

Numerous classifications, including LAHSAL and Kernahan’s striped Y, aid organizing the heterogeneous nature of typical orofacial clefts. Antenatal diagnosis occurs in approximately 80% of births and is more accurate for diagnosing cleft lip than cleft palate. Most parents find antenatal diagnosis beneficial for psychological adjustment and planning prior to the birth. Airway assessment is vital in neonates with a cleft. Most, even those with severe Robin sequence, can be managed non-surgically with lateral or prone positioning, a nasopharyngeal airway, and supplemental oxygen. Sleep studies are an important means of assessing the airway. Feeding is a major concern in babies with a cleft; early feeding intervention and parental education is important. Other conditions, including Robin sequence, 22q11 deletion syndrome, Stickler syndrome, and van der Woude syndrome, must be identified early in conjunction with the cleft multidisciplinary team. Genetic analysis and counselling should be considered.

RERE deficiency contributes to the development of orofacial clefts in humans and mice

2021 ◽  
Author(s):  
Bum Jun Kim ◽  
Hitisha P Zaveri ◽  
Peter N Kundert ◽  
Valerie K Jordan ◽  
Tiana M Scott ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Neurodevelopmental Disorder ◽  
Mouse Embryos ◽  
Deletion Syndrome ◽  
Orofacial Clefts ◽  
Orofacial Clefting ◽  
Increased Risk ◽  
The Brain ◽  
Human And Mouse

AbstractDeletions of chromosome 1p36 are the most common telomeric deletions in humans and are associated with an increased risk of orofacial clefting. Deletion/phenotype mapping, combined with data from human and mouse studies, suggests the existence of multiple 1p36 genes associated with orofacial clefting including SKI, PRDM16, PAX7 and GRHL3. The arginine–glutamic acid dipeptide (RE) repeats gene (RERE) is located in the proximal critical region for 1p36 deletion syndrome and encodes a nuclear receptor co-regulator. Pathogenic RERE variants have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye or heart (NEDBEH). Cleft lip has previously been described in one individual with NEDBEH. Here we report the first individual with NEDBEH to have a cleft palate. We confirm that RERE is broadly expressed in the palate during mouse embryonic development, and we demonstrate that the majority of RERE-deficient mouse embryos on C57BL/6 background have cleft palate. We go on to show that ablation of Rere in cranial neural crest (CNC) cells, mediated by a Wnt1-Cre, leads to delayed elevation of the palatal shelves and cleft palate and that proliferation of mesenchymal cells in the palatal shelves is significantly reduced in Rereflox/flox; Wnt1-Cre embryos. We conclude that loss of RERE function contributes to the development of orofacial clefts in individuals with proximal 1p36 deletions and NEDBEH and that RERE expression in CNC cells and their derivatives is required for normal palatal development.

A Population-Based Evaluation of Antenatal Diagnosis of Orofacial Clefts

2008 ◽  
Vol 45 (2) ◽  
pp. 148-153 ◽  
Author(s):  
Kathleen A. Russell ◽  
Victoria M. Allen ◽  
Mary E. MacDonald ◽  
Kirsten Smith ◽  
Linda Dodds
Keyword(s):  
Nova Scotia ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Chromosomal Abnormalities ◽  
Antenatal Diagnosis ◽  
Population Based ◽  
Orofacial Clefts ◽  
Antenatal Detection ◽  
Type Mode ◽  
Isolated Cleft Palate

Objectives: To evaluate the changes in prevalence and antenatal detection of cleft lip with or without cleft palate and isolated cleft palate and to describe the association between anomalies and rates of antenatal diagnosis in Nova Scotia from 1992 to 2002. Design: This population-based cohort study employed the Nova Scotia Atlee Perinatal Database, the Fetal Anomaly Database, and IWK Cleft Palate Database in Halifax, Nova Scotia, Canada. Outcome Measures: Cleft type, mode of diagnosis, and associated abnormalities of orofacial clefts for liveborn infants, stillbirths, and second trimester terminations of pregnancy between 1992 and 2002 were determined. Results: There were 225 fetuses identified as having orofacial clefts. The overall prevalence of clefts was 2.1 in 1000 live births, and this prevalence did not change with time. The overall antenatal detection of cleft lip with or without cleft palate was 23%; however, there was improvement in detection of cleft lip with or without cleft palate from the years 1992 to 1996 (14%) to the years 1997 to 2002 (30%, p  =  .02). No isolated cleft palates were detected antenatally. Associated structural anomalies were seen in 34.2% of cases with orofacial clefts, and chromosomal abnormalities were associated with 9.8%. Conclusions: The prevalence of orofacial clefts in Nova Scotia has not changed from 1992 to 2002. The proportion of antenatally diagnosed cleft lip with or without cleft palate in Nova Scotia is consistent with rates reported in the literature and has increased from 1992 to 2002.

scholarly journals Immediate rehabilitation with feeding appliance of a three day old neonate with cleft lip and palate- a case report

2017 ◽  
Vol 13 (2) ◽  
pp. 293-295
Author(s):  
Deepika Kapoor ◽  
Deepanshu Garg
Keyword(s):  
Case Report ◽  
Cleft Lip ◽  
Multidisciplinary Approach ◽  
Cleft Lip And Palate ◽  
Facial Growth ◽  
Orofacial Clefts ◽  
High Incidence ◽  
Negative Effect ◽  
Growth Development ◽  
Very High

Orofacial clefts (OFC) are one of the most common congenital problems seen with a very high incidence. It imparts a negative effect on the overall health of the child by hindering in his feeding practices, normal facial growth, development of dentition and hence speech. Infants born with orofacial clefts have oronasal communication which creates a problem with the creation of negative pressure inside the oral cavity required for suckling.The treatment for such patients is with the multidisciplinary approach but the preliminary  concern for the neonate is to help with the feeding for which a feeding appliance is given. This case report presents a case of a 3-day old infant to whom a feeding appliance was given to aid in suckling. 

scholarly journals Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

2017 ◽  
Vol 136 (3) ◽  
pp. 275-286 ◽  
Author(s):  
Elizabeth J. Leslie ◽  
Jenna C. Carlson ◽  
John R. Shaffer ◽  
Azeez Butali ◽  
Carmen J. Buxó ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Orofacial Clefts ◽  
Genome Wide ◽  
Meta Analyses ◽  
Novel Associations

Morphological Presentation of Orofacial Clefts: An Epidemiological Study of 5004 Patients in a Tertiary Care Hospital of Central India

2021 ◽  
pp. 105566562110577
Author(s):  
Jaideep Singh Chauhan ◽  
Sarwpriya Sharma
Keyword(s):  
Cleft Palate ◽  
Epidemiological Study ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Tertiary Care ◽  
Central India ◽  
Care Hospital ◽  
Orofacial Clefts ◽  
Chi Square ◽  
The Right

Objective: To analyse the morphological presentation of orofacial clefts, gender, syndromes and systemic anomalies associated with them. Design: This was an epidemiological study performed in the patients who were registered for cleft lip and palate surgeries in our centre. The data was evaluated both retrospectively as well as prospectively. Patients/ Participants: The patients registered from November 2006 to April 2021 were studied. Out of 5276 patients, data of 5004 cases were analysed, rest 272 patients were excluded due to lack of information. Statistical analysis and Chi square test were applied. Results: Cleft deformities were more common in males than females. Cleft lip with palate was the commonest phenotype (52.2%). It was followed by isolated cleft lip (22.9%), isolated cleft palate (22.1%), rare clefts (1.62%) and syndromic clefts (1.18%). Unilateral variants were more frequent than bilateral. In unilateral, left side was more common than the right side. Among bilateral, most of the cases had premaxillary protrusion. In the present study, 3.46% of all the patients had associated anomalies affecting their other organs. Less common cleft phenotypes like microform cleft lip and submucous cleft palate ± bifid uvula showed frequency of 0.62% and 0.64% respectively. Conclusion: Thorough examination of cleft deformity should be done as it may appear as an isolated deformity or part of a syndrome and have associated systemic anomalies. This may help us to deliver comprehensive care to the patients and can prevent potential operative complications.

Improving Cleft Palate/Cleft Lip Antenatal Diagnosis by 3-Dimensional Sonography

2006 ◽  
Vol 25 (11) ◽  
pp. 1423-1430 ◽  
Author(s):  
Lawrence D. Platt ◽  
Greggory R. DeVore ◽  
Dolores H. Pretorius
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Antenatal Diagnosis ◽  
3 Dimensional

scholarly journals Closing the Gap: Mouse Models to Study Adhesion in Secondary Palatogenesis

2017 ◽  
Vol 96 (11) ◽  
pp. 1210-1220 ◽  
Author(s):  
K.J. Lough ◽  
K.M. Byrd ◽  
D.C. Spitzer ◽  
S.E Williams
Keyword(s):  
Mouse Models ◽  
Animal Studies ◽  
Cleft Lip ◽  
Ex Vivo ◽  
Genetically Engineered ◽  
Orofacial Clefts ◽  
Orofacial Clefting ◽  
Palatal Fusion ◽  
Closing The Gap

Secondary palatogenesis occurs when the bilateral palatal shelves (PS), arising from maxillary prominences, fuse at the midline, forming the hard and soft palate. This embryonic phenomenon involves a complex array of morphogenetic events that require coordinated proliferation, apoptosis, migration, and adhesion in the PS epithelia and underlying mesenchyme. When the delicate process of craniofacial morphogenesis is disrupted, the result is orofacial clefting, including cleft lip and cleft palate (CL/P). Through human genetic and animal studies, there are now hundreds of known genetic alternations associated with orofacial clefts; so, it is not surprising that CL/P is among the most common of all birth defects. In recent years, in vitro cell-based assays, ex vivo palate cultures, and genetically engineered animal models have advanced our understanding of the developmental and cell biological pathways that contribute to palate closure. This is particularly true for the areas of PS patterning and growth as well as medial epithelial seam dissolution during palatal fusion. Here, we focus on epithelial cell-cell adhesion, a critical but understudied process in secondary palatogenesis, and provide a review of the available tools and mouse models to better understand this phenomenon.

scholarly journals Atuação Fonoaudiológica e Fisioterápica nas Fissuras Orofaciais não Sindrômicas

UNICIÊNCIAS ◽  
2021 ◽  
Vol 24 (2) ◽  
pp. 205-210
Author(s):  
Carla Meliso Rodrigues Silvestre ◽  
Ana Clara Giraldeli ◽  
Luana Borges Estevão ◽  
Eliane Gomes Fernandes de Oliveira ◽  
Cristhiane Almeida Leite da Silva ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Cleft Lip ◽  
Speech Therapy ◽  
Cleft Lip And Palate ◽  
Functional Independence ◽  
Oral Feeding ◽  
Orofacial Clefts ◽  
Long Term Treatment ◽  
Speech Therapist

A fissura de lábio e ou de palato não sindrômicas são anomalias congênitas craniofaciais mais frequentes. Elas ocasionam problemas estéticos e funcionais que requerem tratamento em longo prazo, envolvendo reabilitação multidisciplinar incluindo a fonoaudiologia e fisioterapia. Este estudo propõem apresentar alguns dos princípios de atuação do fonoaudiólogo e do fisioterapeuta nas fissuras orofaciais não sindrômicas. Realizou-se uma revisão de literatura narrativa com busca na Bireme e Scielo e nas bases Lilacs, Pedro e  PubMed em outubro de 2020, envolvendo a atuação do  fonoaudiólogo e do fisioterapeuta nas fissuras orofaciais não sindrômica, no idioma inglês e português, sem recorte temporal. Os estudos encontrados observaram que a intervenção fonoaudiológica e fisioterapêutica deve ser mais precoce e de acordo com a disfunção apresentada. De modo geral, a atuação do fonoaudiólogo favorece a alimentação oral  e o desenvolvimento global referente à linguagem, a fala, audição e neuropsicomotor, para evitar atrasos e favorecer o melhor desenvolvimento infantil. A atuação fisioterapêutica visa diminuir a hospitalização prolongada, melhorar a qualidade de vida e funcionalidade, bem como assistir as crianças que cursarem com problemas motores, posturais e respiratórios. Conclui-se que a atuação fonoaudiológica nas diferentes fases da reabilitação de indivíduos com fissuras labiopalatinas contribui para alimentação e inteligibilidade da fala, beneficiando assim a comunicação verbal e consequentemente a interação com o meio social; e a assistência fisioterapêutica ajuda e melhorar a sintomatologia e as disfunções respiratórias apresentadas, prevenindo e tratando complicações de forma a melhorar a qualidade de vida e restabelecer a independência funcional.   Palavras-chave: Fissura Palatina. Fenda Labial. Aleitamento Materno. Fala. Fisioterapia.   Abstract Non-syndromic cleft lip and or palate are the most frequent congenital craniofacial anomalies. They cause aesthetic and functional problems that require long-term treatment, involving rehabilitation including speech therapy and physiotherapy. This study proposes to present some of the principles of performance of the speech therapist and physiotherapist in non-syndromic orofacial clefts. A narrative literature review was carried out with searches in Bireme and Scielo and in the Lilacs, Pedro and PubMed databases in October 2020, involving the performance of the speech therapist and physiotherapist in non-syndromic orofacial clefts, in English and Portuguese, with no time frame. The studies observed that speech therapy and physiotherapy intervention should be as earlier and in accordance with the presented dysfunction. In general, the performance of the speech therapist favors oral feeding and the global development related to language, speech, hearing and neuropsychomotor, to avoid delays and favor best child development. Physiotherapeutic action aims to reduce the prolonged hospitalization, improve quality of life and functionality, as well as assist children who are experiencing motor, postural and respiratory problems. It is concluded that the speech therapy performance in the different phases of rehabilitation of individuals with cleft lip and palate contributes to feeding and speech intelligibility, thus benefiting verbal communication and consequently the interaction with the social environment; and physiotherapeutic assistance helps and improves the symptoms and respiratory disorders presented, preventing and treating complications in order to improve the quality of life and restore functional independence.   Keywords: Cleft Palate. Cleft Lip. Breast Feeding. Speech. Physiotherapy.

scholarly journals Genome-wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions

2020 ◽  
Author(s):  
Nandita Mukhopadhyay ◽  
Eleanor Feingold ◽  
Lina Moreno-Uribe ◽  
George Wehby ◽  
Luz Consuelo Valencia-Ramirez ◽  
...  
Keyword(s):  
Native American ◽  
Cleft Lip ◽  
Genome Wide Association Study ◽  
Population Level ◽  
Allele Frequencies ◽  
Genome Wide Association ◽  
South American ◽  
Orofacial Clefts ◽  
Public Health Burden ◽  
Genome Wide

AbstractOrofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority of OFCs are non-syndromic and vary in prevalence by ethnicity. Africans have the lowest prevalence of OFCs (∼ 1/2,500), Asians have the highest prevalence (∼1/500), European and Latin Americans lie somewhere in the middle (∼1/800 and 1/900 respectively). Thus, ethnicity appears to be a major determinant of the risk of developing OFC. The Pittsburgh Orofacial Clefts Multiethnic study was designed to explore this ethnic variance, comprising a large number of families and individuals (∼12,000 individuals) from multiple populations worldwide: US and Europe, Asians, mixed Native American/Caucasians, and Africans. In this current study, we analyzed 2,915 OFC cases, 6,044 unaffected individuals related to the OFC cases, and 2,685 controls with no personal or family history of OFC. Participants were grouped by their ancestry into African, Asian, European, and Central and South American subsets, and genome-wide association run on the combined sample as well as the four ancestry-based groups. We observed 22 associations to cleft lip with or without cleft palate at 18 distinct loci with p-values < 1e-06, including 10 with genome-wide significance (< 5e-08), in the combined sample and within ancestry groups. Three loci - 2p12 (rs62164740, p=6.27e-07), 10q22.2 (rs150952246, p=3.14e-07), and 10q24.32 (rs118107597, p=8.21e-07) are novel. Nine were in or near known OFC loci - PAX7, IRF6, FAM49A, DCAF4L2, 8q24.21, NTN1, WNT3-WNT9B, TANC2, and RHPN2. The majority of the associations were observed only in the combined sample, European, and Central and South American groups. We investigated whether the observed differences in association strength were a) purely due to sample sizes, b) due to systematic allele frequency difference at the population level, or (c) due to the fact certain OFC-causing variants confer different amounts of risk depending on ancestral origin, by comparing effect sizes to observed allele frequencies of the effect allele in our ancestry-based groups. While some of the associations differ due to systematic differences in allele frequencies between groups, others show variation in effect size despite similar frequencies across ancestry groups.

Socioeconomic Status and Orofacial Clefts in Scotland, 1989 to 1998

2003 ◽  
Vol 40 (5) ◽  
pp. 481-485 ◽  
Author(s):  
J. D. Clark ◽  
P. A. Mossey ◽  
L. Sharp ◽  
J. Little
Keyword(s):  
Risk Factors ◽  
Socioeconomic Status ◽  
Cleft Lip ◽  
Population Based ◽  
Orofacial Clefts ◽  
Smoking During Pregnancy ◽  
Live Births ◽  
Strong Positive Relationship ◽  
The Relationship ◽  
Deprived Areas

Objective The purpose of this study was to investigate the association between socioeconomic status and orofacial clefts (OFC) in Scotland. Design Study of prevalence at birth over a 10-year period using an area-based measure of material deprivation. Setting Population-based study throughout Scotland. Participants Eight hundred thirty-four live births with OFC born between January 1, 1989, and December 31, 1998, ascertained from the nationwide register of the Cleft Service in Scotland, compared with the total 603,825 live births in Scotland in this period. Results There was a strong positive relationship whereby the prevalence of OFC at birth increased with increasing deprivation. This trend was statistically significant for cleft lip and/or palate (CL[P]: p = .016) but not for cleft palate (CP; p = .078). For each type of cleft, the relative risk among those resident in the most deprived areas, compared with those resident in the least deprived areas, was 2.33. Conclusions The association between OFC and socioeconomic status is consistent with a report for an earlier period in a smaller part of Scotland. Unlike the earlier study, this pattern appears to be stronger for CL(P) than for CP. These observations do not appear to be an artifact of recording. It is possible that they reflect the association between deprivation and risk factors for OFC, most likely tobacco smoking during pregnancy. Because the relationship between OFC and socioeconomic status appears to have been virtually unstudied in other populations, it would be valuable to investigate this relationship elsewhere and determine whether known risk factors account for the relationship.

Sign in / Sign up

Export Citation Format

Share Document