scholarly journals Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes

2021 ◽  
Author(s):  
Theodosia Bartzela ◽  
Björn Theuerkauf ◽  
Elisabeth Reichardt ◽  
Malte Spielmann ◽  
Charlotte Opitz
Keyword(s):  
Early Identification ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Phenotypic Variability ◽  
Family Members ◽  
Pierre Robin Sequence ◽  
Associated Malformations ◽  
Pierre Robin

Abstract Objectives To clinically characterize patients and family members with cleft lip and/or palate (CL/P) and associated congenital malformations or syndromes and propose possible inheritance patterns. Materials and methods An observational study of patients with CL/P, including medical and family history and intra- and extra-oral examination of their family members, was performed. Results Two hundred sixty-six patients, 1257 family members, and 42 pedigrees were included in the study. The distribution of patients according to the cleft type was 57.9% with CLP, 25.2% with cleft palate (CPO), and 12.8% with cleft lip with/without alveolus (CL/A). Seventy-four (27.8%) patients had associated malformations, and 24 (9.2%) a syndrome. The skeletal (27.7%), cardiovascular (19.3%) systems, and eyes (22.9%) were most commonly affected. Pierre Robin Sequence (7 patients) and van der Woude (4) were the most common syndromes. The majority of patients with CPO (19/24) had an associate syndrome. The families had an average of 2.45 affected members. Conclusion Individual and interfamilial phenotypic variability in patients with CL/P makes the understanding of etiopathogenesis challenging. Clinical relevance The overall prevalence of individuals with CL/P and their pedigrees with associated malformations and syndromes emphasize the need for early identification, interdisciplinary, and long-term planning.

A Case Report of Absent Epiglottis in Children with Nager Syndrome: Its Impact on Swallowing

2017 ◽  
Vol 54 (6) ◽  
pp. 754-757 ◽  
Author(s):  
Sok Yan Tay ◽  
Woei Shyang Loh ◽  
Thiam Chye Lim
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Clinical Report ◽  
Pierre Robin Sequence ◽  
Literature Report ◽  
Robin Sequence ◽  
Aspiration Risk ◽  
Nager Syndrome ◽  
Pierre Robin

Objective This clinical report is the first literature report exploring the issues of an absent epiglottis in children diagnosed with Nager syndrome. Absent epiglottis has previously been described in children with Pierre Robin sequence and other syndromes. Conclusion The function of the epiglottis and its contribution to swallowing has always been debated. In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries.

scholarly journals Association of other congenital anomalies in children with cleft lip and palate: a prospective hospital based observational study

2019 ◽  
Vol 6 (3) ◽  
pp. 1059
Author(s):  
Padmasani Venkat Ramanan ◽  
Rajesh Balan ◽  
Jyotsna Murthy ◽  
Syed Altaf Hussain
Keyword(s):  
Congenital Anomaly ◽  
Congenital Anomalies ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Associated Anomalies ◽  
Live Births ◽  
Associated Malformations ◽  
Syndrome Association

Background: Cleft lip and palate is a common congenital anomaly affecting approximately 1 in 700 live births in south Asia. It is often associated with syndromes and other malformations but the exact incidence of these in Asians is not known. The present study was carried out to determine the association of other congenital anomalies in children with cleft.Methods: The study was carried out in the patients attending the Cleft centre of our Hospital. They were examined for other major external congenital malformations and syndrome association.  Where ever relevant, appropriate investigations were done.Results: Of the total of 2367 children examined, 262 (11.06%) had congenital malformations.  Among the non-syndromic children, 9% had associated malformations.  The commonest was congenital heart disease (1.4%) following by genitourinary and skeletal anomalies.  The highest number of anomalies was seen in patients with cleft palate alone (24.89%). 1.4% patients had identifiable syndromes.Conclusions: The study emphasizes the need for a thorough examination of all children with cleft.  The overall lower incidence of syndromic clefts and associated anomalies in present study suggests that other etiological factors may be involved in our country.

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation

2021 ◽  
pp. 105566562110527
Author(s):  
Anubhuti Sood ◽  
Uzma Shamim ◽  
Om P. Kharbanda ◽  
Madhulika Kabra ◽  
Neerja Gupta ◽  
...  
Keyword(s):  
De Novo ◽  
Tertiary Care ◽  
Family Members ◽  
Point Mutations ◽  
Copy Number Variations ◽  
Care Hospital ◽  
Pierre Robin Sequence ◽  
Single Nucleotide Variants ◽  
Robin Sequence ◽  
Pierre Robin

Background Pierre Robin Sequence (PRS) affects approximately 1 per 8500 to 14000 new-borns worldwide. Although the clinical entity is well defined, the pathogenesis of PRS is debated. The present study aims to understand the contribution of genomic imbalances and genetic variants in patients clinically diagnosed of PRS. Methodology A total of 7 independent patients with nonsyndromic PRS thoroughly evaluated by a medical geneticist at a tertiary care hospital, were included in the study. Blood samples were collected from these patients and their family members. Array CGH was performed on all 7 patients and their respective family members for detection of underlying cytogenetic defects. Whole exome sequencing (WES) was performed for 5 families to capture single nucleotide variants or small indels. Results Cytogenetic analyses did not detect any previously reported gross chromosomal aberrations for PRS in the patient cohort. However, copy number variations (CNVs) of size <1 Mb were detected in patients which may have implications in PRS. The present study provided evidence for the occurrence of de novo deletions at 7p14.1 locus in PRS patients: further validating the candidate loci susceptibility in oral clefts. WES data identified LOXL3 as candidate gene, carrying novel deleterious variant, which is suggestive of the role of point mutations in the pathogenesis of PRS. Conclusion The present study offered considerable insight into the contribution of cytogenetic defects and novel point mutation in the etiology of nonsyndromic PRS. Studies comprising large number of cases are required to fully elucidate the genetic mechanisms underlying the PRS phenotype.

Long Term Speech and Feeding Outcomes in Patients With Pierre Robin Sequence

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Alexander Morzycki ◽  
Curtis Budden ◽  
Samuel Skulsky ◽  
Loredana Cuglietta ◽  
Regan Guilfoyle
Keyword(s):  
Pierre Robin Sequence ◽  
Robin Sequence ◽  
Pierre Robin

Long-Term Orthognathic Considerations in the Pierre Robin Sequence Patient

2020 ◽  
Vol 146 (5) ◽  
pp. 599e-606e ◽  
Author(s):  
Miles J. Pfaff ◽  
Fransia De Leon ◽  
Laura Le ◽  
Christos Haveles ◽  
Claire Liu ◽  
...  
Keyword(s):  
Pierre Robin Sequence ◽  
Robin Sequence ◽  
Pierre Robin

The Genetic Basis of the Pierre Robin Sequence

2006 ◽  
Vol 43 (2) ◽  
pp. 155-159 ◽  
Author(s):  
Linda P. Jakobsen ◽  
Mary A. Knudsen ◽  
James Lespinasse ◽  
Carmen García Ayuso ◽  
Carmen Ramos ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Candidate Genes ◽  
Cleft Lip ◽  
Genetic Basis ◽  
Mendelian Inheritance ◽  
Potential Candidate ◽  
Pierre Robin Sequence ◽  
Gene Map ◽  
Robin Sequence ◽  
Pierre Robin

Objective The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is generally unknown. Some factors are suggestive of a genetic basis for PRS. The purpose of this study was to compare genetic information on PRS available in the literature and in a cytogenetic database to facilitate focused genetic studies of PRS. Design After searching Medline for “pierre robin and genetics,” the Mendelian Cytogenetics Network database for “robin” and “pierre robin,” and two reviews from the Human Cytogenetics Database for “cleft palate” and “micrognathia,” a comparison of the data and a search in Online Mendelian Inheritance in Man (OMIM) Gene Map was performed to identify relevant candidate genes. Results The findings revealed consistency to a certain degree to loci 2q24.1-33.3, 4q32-qter, 11q21-23.1, and 17q21-24.3. A search in the OMIM Gene Map provided many candidate genes for PRS in these regions. The GAD67 on 2q31, the PVRL1 on 11q23-q24, and the SOX9 gene on 17q24.3-q25.1 are suggested to be of particular importance. Conclusion Candidate loci and a few potential candidate genes for PRS are proposed from the present study. This may enable researchers to focus their effort in the studies of PRS.

Cleft Lip and Palate: Association with Other Congenital Malformations

2009 ◽  
Vol 33 (3) ◽  
pp. 207-210 ◽  
Author(s):  
Soraya Beriaghi ◽  
Sandra Myers ◽  
Scott Jensen ◽  
Shanti Kaimal ◽  
Cynthia Chan ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Congenital Malformations ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Diagnostic Testing ◽  
Research Hospital ◽  
Orofacial Clefting ◽  
Orofacial Region ◽  
Associated Malformations ◽  
Hospital Study

Orofacial clefts are frequently associated with other congenital malformations. Studies vary in incidence and types of anomalies. Objective: To evaluate associated malformations in orofacial cleft patients at a major research hospital. Study Design: Medical records of 1127 patients, in the Cleft Palate / Craniofacial Clinic, Boys Town National Research Hospital, from January 1980 through February 2000 were reviewed. Patients were divided into two categories: 1) cleft palate only (CP), and 2) cleft lip, with or without cleft palate (CL±P). Further categorization included location and type, if any, of other congenital malformations.Results: 47.2% of patients had CP and 52.8% had CL±P. 32.2% of all cleft patients had associated congenital malformations. The orofacial region was the most common site, followed by cardiovascular, central nervous, and skeletal systems. Congenital malformations were more common in CP (38.7%), than CL±P(26.4%). Of malformations diagnosed, 63.1% were chromosomal/syndromic anomalies while 36.9% were non-chromosomal/syndromic. Conclusions: Recognition of the spectrum of congenital malformations,associated with orofacial clefting, is essential for further diagnostic testing and in some cases genetic counseling.

How Does Hypodontia Compare in Nonsyndromic Pierre Robin Sequence Versus Isolated Cleft Palate and Isolated Cleft Lip?

2021 ◽  
pp. 105566562110177
Author(s):  
Maria Dillon ◽  
Madhavi Seshu ◽  
Norah Flanigan ◽  
Susana Dominguez-Gonzalez
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Pierre Robin Sequence ◽  
Robin Sequence ◽  
Sequence Versus ◽  
Group 2 ◽  
Alder Hey ◽  
Isolated Cleft Palate ◽  
Pierre Robin ◽  
Group 1

Objective: To assess the prevalence and patterns of hypodontia in nonsyndromic Pierre Robin sequence (PRS) and compare it with hypodontia in nonsyndromic isolated cleft palates and isolated cleft lips. Design: Retrospective cohort study. Setting: Alder Hey Children’s Hospital, United Kingdom. Patients: Patients with nonsyndromic PRS (group 1), isolated cleft palate (group 2), and isolated cleft lip (group 3). Main Outcome Measures: Hypodontia in the permanent dentition assessed from orthopantomographs. Results: A total of 154 patients were included. Group 1 had the highest incidence of hypodontia with 47% having at least one tooth congenitally absent. Groups 2 and 3 had reduced rates of hypodontia with 27% and 19% of the groups missing teeth, respectively; 93% of cases of hypodontia in group 1 involved the absence of at least one second premolar. Of these patients, there was found to be bilateral agenesis of second premolars in 50% of cases. Conclusions: Patients with PRS and cleft palates are more likely to have hypodontia than those with isolated cleft palates or unilateral cleft lips. Patients with PRS have more severe hypodontia than those with isolated cleft palates or unilateral cleft lips. Bilateral agenesis of lower second premolars is a commonly seen pattern among patients with PRS. In this large UK study, a similar prevalence and pattern of hypodontia to other nonsyndromic PRS populations worldwide has been demonstrated.

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