scholarly journals Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate

2018 ◽  
Vol 55 (5) ◽  
pp. 736-742 ◽  
Author(s):  
Lord Jephthah Joojo Gowans ◽  
Ganiyu Oseni ◽  
Peter A. Mossey ◽  
Wasiu Lanre Adeyemo ◽  
Mekonen A. Eshete ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Soft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Sequence Data ◽  
Regulatory Elements ◽  
The Face ◽  
Sub Saharan ◽  
African Patients ◽  
Coding Variants

Objective: Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles. Though at least 40 loci have attained genomewide significant association with nonsyndromic CL/P, these loci largely reside in noncoding regions of the human genome, and subsequent resequencing studies of neighboring candidate genes have revealed only a limited number of etiologic coding variants. The present study was conducted to identify etiologic coding variants in GREM1, a locus that has been shown to be largely associated with cleft of both lip and soft palate. Patients and Method: We resequenced DNA from 397 sub-Saharan Africans with CL/P and 192 controls using Sanger sequencing. Following analyses of the sequence data, we observed 2 novel coding variants in GREM1. These variants were not found in the 192 African controls and have never been previously reported in any public genetic variant database that includes more than 5000 combined African and African American controls or from the CL/P literature. Results: The novel variants include p.Pro164Ser in an individual with soft palate cleft only and p.Gly61Asp in an individual with bilateral cleft lip and palate. The proband with the p.Gly61Asp GREM1 variant is a van der Woude (VWS) case who also has an etiologic variant in IRF6 gene. Conclusion: Our study demonstrated that there is low number of etiologic coding variants in GREM1, confirming earlier suggestions that variants in regulatory elements may largely account for the association between this locus and CL/P.

scholarly journals Case report on bilateral cleft palate with protuded premaxilla

2022 ◽  
Vol 4 (4) ◽  
pp. 154-157
Author(s):  
Priyanka Kosare ◽  
Pallavi Madanrao Bobade
Keyword(s):  
Case Report ◽  
Cleft Palate ◽  
Soft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Bilateral Cleft Lip ◽  
Icd 10

Cleft palate (ICD 10-Q 35.9) with Protruding of premaxilla is common feature in patient with bilateral cleft lip and palate it is due to the under trained growth at anterior nasal septal and vomero-premaxillary suture without lateral continuities. Hippocrates (400BC) AND Galen(150AD) mansion cleft lip, but not cleft palate in their writing, Cleft palate –Fanco.(1556), Repair of cleft lip –as early as 255-206 BC in CHINA. The first successful closure of a soft palate defect was reported in 1764 by LEMONNIERa French dentist.

Comparison of Velopharyngeal Growth Patterns between Cleft Lip and/or Palate Patients Requiring or Not Requiring Pharyngeal Flap Surgery

1994 ◽  
Vol 31 (6) ◽  
pp. 452-460 ◽  
Author(s):  
Mohammad Mazaheri ◽  
Athanasios E. Athanasiou ◽  
Ross E. Long
Keyword(s):  
Cleft Palate ◽  
Soft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Growth Curves ◽  
Growth Patterns ◽  
Flap Surgery ◽  
Velopharyngeal Incompetence ◽  
Lateral Cephalograms ◽  
Pharyngeal Flap

This investigation compares the patterns of velopharyngeal growth in cleft lip and/or palate patients. Those who had velopharyngeal competence and acceptable speech are compared with those who presented with velopharyngeal incompetence requiring pharyngeal flap surgery or prosthesis later. Lateral cephalograms of 30 cleft palate only (CPO), 35 unilateral cleft lip and palate (UCLP), and 20 bilateral cleft lip and palate (BCLP) children of the Lancaster Cleft Palate Clinic were studied. These records were taken at 6 month intervals during the first 2 postnatal years and annually thereafter up to 6 years of age. Soft tissue landmark points in the velopharyngeal region were digitized. Length and thickness of the soft palate and height and depth of the nasopharynx were measured. Evaluation of the growth curves of these four cephalometric variables indicated only two significant differences between children who later required pharyngeal flap surgery and those who did not. These differences were found in the growth in length of the soft palate of the CPO group and in the growth in depth of the nasopharynx of the BCLP group. Based on the present cephalometric data, it is Impossible to predict at an early age those cleft lip and/or palate patients who will later require pharyngeal flaps.

scholarly journals Cleft palate repair and variations

2009 ◽  
Vol 42 (S 01) ◽  
pp. S102-S109
Author(s):  
Karoon Agrawal
Keyword(s):  
Cleft Palate ◽  
Soft Palate ◽  
Hard Palate ◽  
Cleft Lip ◽  
The Face ◽  
Cleft Palate Repair ◽  
Palate Repair ◽  
Pharyngeal Flap ◽  
The One ◽  
Ideal Technique

ABSTRACTCleft palate affects almost every function of the face except vision. Today a child born with cleft palate with or without cleft lip should not be considered as unfortunate, because surgical repair of cleft palate has reached a highly satisfactory level. However for an average cleft surgeon palatoplasty remains an enigma. The surgery differs from centre to centre and surgeon to surgeon. However there is general agreement that palatoplasty (soft palate at least) should be performed between 6-12 months of age. Basically there are three groups of palatoplasty techniques. One is for hard palate repair, second for soft palate repair and the third based on the surgical schedule. Hard palate repair techniques are Veau-Wardill-Kilner V-Y, von Langenbeck, two-flap, Aleveolar extension palatoplasty, vomer flap, raw area free palatoplasty etc. The soft palate techniques are intravelar veloplasty, double opposing Z-plasty, radical muscle dissection, primary pharyngeal flap etc. And the protocol based techniques are Schweckendiek's, Malek's, whole in one, modified schedule with palatoplasty before lip repair etc. One should also know the effect of each technique on maxillofacial growth and speech. The ideal technique of palatoplasty is the one which gives perfect speech without affecting the maxillofacial growth and hearing. The techniques are still evolving because we are yet to design an ideal one. It is always good to know all the techniques and variations so that one can choose whichever gives the best result in one's hands. A large number of techniques are available in literature, and also every surgeon incorporates his own modification to make it a variation. However there are some basic techniques, which are described in details which are used in various centres. Some of the important variations are also described.

Cytophotometrical and immunohistochemical analysis of soft palate muscles of children with isolated cleft palate and combined cleft lip and palate

2002 ◽  
Vol 54 (1) ◽  
pp. 69-75 ◽  
Author(s):  
Karl-Friedrich Krey ◽  
Karl-Heinz Dannhauer ◽  
Alexander Hemprich ◽  
Sergey Zaitsev ◽  
Agnes Bankfalvi ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Soft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Immunohistochemical Analysis ◽  
Isolated Cleft Palate

Aspects of orthodontic protocol in cleft lip and palate patients

2020 ◽  
Vol 20 (2) ◽  
pp. 137-142
Author(s):  
O. V. Dudnik ◽  
Ad. A. Mamedov ◽  
O. I. Admakin ◽  
A. A. Skakodub ◽  
Y. O. Volkov ◽  
...  
Keyword(s):  
Oral Hygiene ◽  
Orthodontic Treatment ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Comprehensive Approach ◽  
Maxillofacial Region ◽  
Indirect Methods ◽  
Indirect Bonding ◽  
The Face ◽  
Direct And Indirect Methods

Relevance. Cleft lip and palate is one of the severe malformations of the face and jaw, requiring a comprehensive approach to the rehabilitation of the patients, including doctors of various specialties, one of which is orthodontists. A feature of orthodontic treatment is difficulty of fixing bracket systems, as well as lowering the level of oral hygiene, caused by deformation and displacement of fragments of the maxillofacial region.Purpose. Improving the effectiveness of orthodontic treatment and hygiene of the oral caviti in patients with cleft lip and palate in permanent bite period.Materials and methods. A comparison was made of the effetctiveness of fixing brackets systmes with direct and indirect bonding techniques and the effectiveness of oral hygiene during orthodontic treatment using irrigators.Results. The results of the study showed a difference in the effectiveness of using direct and indirect methods of fixing bracket systems in patients with cleft and palate. The use of irrigators as additional means of oral hygiene has demonstrated a positive dynamic of hygiene indices.Conclusions. Results of the study demonstrate the advantages of fixation the brackets by indirect bonding and use additional hygiene products irrigator for improving of oral hygiene.

Perceptual Speech Outcomes After Early Primary Palatal Repair in Ugandan Patients With Cleft Palate

2020 ◽  
pp. 105566562098024
Author(s):  
Kim Bettens ◽  
Laura Bruneel ◽  
Cassandra Alighieri ◽  
Daniel Sseremba ◽  
Duncan Musasizib ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Speech Therapy ◽  
Cleft Lip And Palate ◽  
Control Group ◽  
English Speaking ◽  
And Gender ◽  
Early Primary ◽  
Velopharyngeal Function ◽  
Normal Speech

Objective: To provide speech outcomes of English-speaking Ugandan patients with a cleft palate with or without cleft lip (CP±L). Design: Prospective case–control study. Setting: Referral hospital for patients with cleft lip and palate in Uganda. Participants: Twenty-four English-speaking Ugandan children with a CP±L (15 boys, 9 girls, mean 8.4 years) who received palatal closure prior to 6 months of age and an age- and gender-matched control group of Ugandan children without cleft palate. Interventions: Comparison of speech outcomes of the patient and control group. Main Outcome Measures: Perceptual speech outcomes including articulation, resonance, speech understandability and acceptability, and velopharyngeal composite score (VPC-sum). Information regarding speech therapy, fistula rate, and secondary surgery. Results: Normal speech understandability was observed in 42% of the patients, and 38% were judged with normal speech acceptability. Only 16% showed compensatory articulation. Acceptable resonance was found in 71%, and 75% of the patients were judged perceptually to present with competent velopharyngeal function based on the VPC-sum. Additional speech intervention was recommended in 25% of the patients. Statistically significant differences for all these variables were still observed with the control children ( P < .05). Conclusions: Overall, acceptable speech outcomes were found after early primary palatal closure. Comparable or even better results were found in comparison with international benchmarks, especially regarding the presence of compensatory articulation. Whether this approach is transferable to Western countries is the subject for further research.

scholarly journals Speech in a consecutive series of children born with cleft lip and palate with and without syndromes and/or additional malformations

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Kristina Klintö ◽  
Maria Sporre ◽  
Magnus Becker
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Consecutive Series ◽  
Total Group ◽  
One Stage ◽  
Audio Recordings ◽  
Bilateral Cleft Lip ◽  
Palatal Surgery ◽  
Group Comparisons

Abstract Background When evaluating speech in children with cleft palate with or without cleft lip (CP/L), children with known syndromes and/or additional malformations (CP/L+) are usually excluded. The aim of this study was to present speech outcome of a consecutive series of 5-year-olds born with CP/L, and to compare speech results of children with CP/L + and children with CP/L without known syndromes and/or additional malformations (CP/L-). Methods One hundred 5-year-olds (20 with CP/L+; 80 with CP/L-) participated. All children were treated with primary palatal surgery in one stage with the same procedure for muscle reconstruction. Three independent judges performed phonetic transcriptions and rated perceived velopharyngeal competence from audio recordings. Based on phonetic transcriptions, percent consonants correct (PCC) and percent non-oral errors were investigated. Group comparisons were performed. Results In the total group, mean PCC was 88.2 and mean percent non-oral errors 1.5. The group with bilateral cleft lip and palate (BCLP) had poorer results on both measures compared to groups with other cleft types. The average results of PCC and percent non-oral errors in the CP/L + group indicated somewhat poorer speech, but no significant differences were observed. In the CP/L + group, 25 % were judged as having incompetent velopharyngeal competence, compared to 15 % in the CP/L- group. Conclusions The results indicated relatively good speech compared to speech of children with CP/L in previous studies. Speech was poorer in many children with more extensive clefts. No significant differences in speech outcomes were observed between CP/L + and CP/L- groups.

Repair of Recurrent Cleft Palate with Free Vastus Lateralis Muscle Flap

2012 ◽  
Vol 49 (2) ◽  
pp. 245-248 ◽  
Author(s):  
Jose G. Christiano ◽  
Amir H. Dorafshar ◽  
Eduardo D. Rodriguez ◽  
Richard J. Redett
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Vastus Lateralis ◽  
Muscle Flap ◽  
Free Flaps ◽  
Vastus Lateralis Muscle ◽  
Oronasal Fistula ◽  
Lateralis Muscle ◽  
Palate Repair

A 6-year-old girl presented with a large recalcitrant oronasal fistula after bilateral cleft lip and palate repair and numerous secondary attempts at fistula closure. Incomplete palmar arches precluded a free radial forearm flap. A free vastus lateralis muscle flap was successfully transferred. No fistula recurrence was observed at 18 months. There was no perceived thigh weakness. The surgical scar healed inconspicuously. Free flaps should no longer be considered the last resort for treatment of recalcitrant fistulas after cleft palate repair. A free vastus lateralis muscle flap is an excellent alternative, and possibly a superior option, to other previously described free flaps.

Results of Multidisciplinary Management of Bilateral Cleft Lip and Palate at the Iowa Cleft Palate Center

1992 ◽  
Vol 89 (3) ◽  
pp. 419-432 ◽  
Author(s):  
Janusz Bardach ◽  
Hughlett L. Morris ◽  
William H. Olin ◽  
Steven D. Gray ◽  
David L. Jones ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Multidisciplinary Management ◽  
Bilateral Cleft Lip
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