scholarly journals Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate

2017 ◽  
Vol 54 (1) ◽  
pp. 90-93 ◽  
Author(s):  
Elizabeth J. Leslie ◽  
Jenna C. Carlson ◽  
Margaret E. Cooper ◽  
Kaare Christensen ◽  
Seth M. Weinberg ◽  
...  

Objective Monozygotic twins of an individual with an orofacial cleft have a significantly elevated risk for orofacial cleft compared with the general population, but still the concordance rate for orofacial cleft in monozygotic twins is about 40% to 50%. The goal of this study was to determine whether unaffected cotwins have an increased frequency of orbicularis oris muscle defects, a subclinical form of orofacial cleft. The presence of such defects may reduce the overall rate of discordance. Method A total of 63 discordant monozygotic and dizygotic twin pairs, 262 unaffected nontwin siblings, and 543 controls with no history of orofacial clefts were assessed for orbicularis oris defects by high-resolution ultrasound. Frequencies were compared by the Fisher exact test. Results Unaffected cotwins from discordant monozygotic pairs had a higher frequency of defects (12.5%) than the other test groups (6.38% to 6.99%), but the difference was not statistically significant ( P = .74). Conclusions In this study, orbicularis oris defects were not statistically significantly more common among the unaffected twins from orofacial cleft discordant twin pairs. The trends in the results warrant future studies with larger sample sizes and additional subclinical phenotypes.

2021 ◽  
pp. 105566562110543
Author(s):  
Aluísio Eustáquio de Freitas Miranda-Filho ◽  
Heloisa de Sousa Gomes ◽  
Roberta Bessa Veloso Silva ◽  
Nelson Pereira Marques ◽  
Hercílio Martelli ◽  
...  

Objective This study aimed to correlate the prevalence of iron deficiency anemia and breastfeeding with orofacial clefts in children. Design Data on the participant profile, presence and type of the cleft lip and/or palate (CL/P), and records on anemia and breastfeeding were collected from patients’ charts, and submitted to statistical analysis by χ2 test ( p < .05; software SPSS 23.0). Results Two-hundred and ten files were divided according to: CL/P presence (cleft group;    n = 132) or absence (control group;    n = 78). Group CL/P was subdivided according to the type of cleft: CL/P-I (cleft lip;    n = 35); CL/P-II (cleft lip and palate;    n = 45); CL/P-III (cleft palate;    n = 43); and CL/P-IV (rare orofacial clefts;    n = 9). Group CL/P had significantly more records on anemia ( p = .016) and fewer records on breastfeeding (P<.01) than controls. More records on anemia occurred in CL/P-II ( p = .004) and CL/P-IV ( p = .006) than the control group. The comparison among the orofacial cleft types regarding the anemia records showed no statistically significant differences ( p = .123). Group CL/P-I had more records on breastfeeding than the other cleft types ( p < .01). Conclusions Thus, it is suggested that the breastfeeding process is more complex, and the history of anemia is more frequent, in children with cleft lip and palate or rare orofacial clefts than in children without clefts.


2007 ◽  
Vol 77 (1) ◽  
pp. 88-93 ◽  
Author(s):  
Seung-Hak Baek ◽  
Na-Young Kim

Abstract Objective: To investigate the differences in the congenital missing teeth pattern in terms of tooth type (permanent maxillary lateral incisor [MLI] and maxillary second premolar [MSP]) and sidedness (cleft vs noncleft) between boys and girls in Korean unilateral cleft lip and alveolus (UCLA) and unilateral cleft lip and palate (UCLP) patients. Materials and Methods: This study used the charts, models, radiographs, and intraoral photographs of 90 UCLA patients and 204 UCLP patients (ages 6 to 13 years). Binomial test, chi-square test, Fisher exact test, maximum likelihood analysis of variance, and the odds ratio were performed. Results: According to the relationship between the congenital missing teeth pattern and the cleft type, the UCLP patients had 2.98 times more missing MLIs and 1.80 times more missing MSPs than did the UCLA patients. The MLI was congenitally missing more in boys than in girls, but the MSP showed the opposite tendency. Boys had a higher frequency of congenital missing MLIs and MSPs on the cleft side than did girls. However, on the noncleft side and both sides, girls had a higher frequency of congenital missing MLIs and MSPs than did boys. Results showed a gender-dominant pattern of congenital missing MLIs and MSPs. Conclusion: These results suggest that gender and cleft type might affect the congenital missing teeth pattern in terms of tooth type and sidedness.


2010 ◽  
Vol 47 (1) ◽  
pp. 9-14 ◽  
Author(s):  
Arezoo Jahanbin ◽  
Naser Mahdavishahri ◽  
Mohammad Mahdi Naseri ◽  
Yasaman Sardari ◽  
Sareh Rezaian

Objectives To test the hypothesis that unaffected parents with nonsyndromic bilateral cleft lip and palate children possess greater levels of dermatoglyphic asymmetry than the normal population and to test for the difference in the distribution of pattern types. Design Case-control study. Setting Mashhad University of Medical Sciences, Mashhad, Iran. Participants Forty-five unaffected parents (45 men and 45 women) of children with nonfamilial bilateral cleft lip and palate anomaly were enlisted. A control group of 45 unaffected parents with at least two unaffected children and no prior family history of clefting were also simultaneously selected. Main Outcome Measures Palm prints and fingerprints were taken from each participant, and total ridge counts, atd angles, and pattern types were determined. For each of the three dermatoglyphic measures, asymmetry scores between right and left hands were defined, and then asymmetry scores of unaffected parents and pattern types were compared statistically with the controls, using Mann-Whitney and chi-square tests. Results In contrast to total ridge count asymmetry, the asymmetry of atd angles in unaffected parents and the asymmetry of patterns (in unaffected mothers) were significantly higher in comparison with the controls. Furthermore, unaffected fathers had significantly more arches than the controls, but there were no significant differences in dermatoglyphic patterns of unaffected mothers and the controls. Conclusion The findings suggest that an increase in the asymmetry of atd angles and pattern types in parents of sporadically affected children may reflect more the genetic base of this congenital malformation.


Author(s):  
David J. Zajac ◽  
Hannah Whitt ◽  
Adriane Baylis ◽  
Maura Tourian ◽  
Katie Garcia

Objective The purpose of this preliminary study was to determine if cleft type and/or history of otitis media with effusion (OM) contribute to backing of /t/ and/or /s/ in young children with and without repaired cleft palate (CP). Method Participants were 39 children ( M age = 36 months, range: 34–41). Ten children had repaired unilateral cleft lip and palate (CLP), nine had repaired CP only, 12 had no clefts but histories of OM, and eight were typically developing (TD) without clefts or OM history. All children were video- and audio-recorded during administration of the Goldman-Fristoe Test of Articulation–Third Edition (GFTA-3). Standard scores of articulation, frequency of alveolar backing, and first spectral moments of the /t/−/k/ and /s/−/ʃ/ phonetic contrasts were obtained. Results Children with CLP had lower GFTA-3 scores than both TD ( p = .012) and OM ( p = .001) groups. Fisher's exact test showed that significantly more children with CLP backed alveolar targets, mostly /s/, than children with CP ( p = .020). Children with CLP also had (a) reduced /t/−/k/ spectral difference compared to TD children ( p = .016) and (b) reduced /s/−/ʃ/ spectral difference compared to both children with CP ( p = .010) and children with OM ( p = .018). Children with OM had reduced /t/−/k/ spectral difference compared to TD children ( p = .009). Conclusions Cleft type contributes to alveolar backing and reduced spectral contrast of /s/−/ʃ/ in 3-year-old children with repaired CP. History of OM affects spectral contrast of /t/−/k/ in noncleft children. Etiology and clinical implications of alveolar backing are discussed.


2021 ◽  
pp. 105566562110106
Author(s):  
Matthew Fell ◽  
Jibby Medina ◽  
Kate Fitzsimons ◽  
Miriam Seifert ◽  
Anne Roberts ◽  
...  

Objective: This study sought to investigate the association between maxillary growth and speech outcomes for children with a repaired unilateral cleft lip and palate (UCLP) at 5 years of age. Participants: In all, 521 children (180 females and 341 males) with a nonsyndromic complete UCLP, born between 2007 and 2012 in England, Wales, and Northern Ireland were included in this study. Outcome Measures: Maxillary growth was analyzed using dental models scored by the 5-Year-Olds’ index, and perceptual speech analyses were scored by the Cleft Audit Protocol for Speech – Augmented rating. Results: Forty-one percent of the children achieved good maxillary growth (scores 1 and 2 on 5-Year-Old’ index). Fifty percent of the children achieved normal speech (achieving UK speech standard 1). Maxillary growth was not found to have an impact on speech outcome when described by the 3 UK National Cleft Lip and Palate Speech Audit Outcome Standards. Analysis according to individual speech parameters showed dentalizations to be less prevalent in children with good maxillary growth compared to fair and poor growth ( P = .001). The remaining speech parameters within resonance, nasal airflow, and articulation categories were not significantly associated with maxillary growth. Conclusion: The findings from this study suggest that children with a history of complete UCLP, who have poor maxillary growth, are not at a higher risk of having major speech errors compared to children with good or fair maxillary growth at 5 years of age.


1992 ◽  
Vol 29 (5) ◽  
pp. 470-474 ◽  
Author(s):  
Bente Felix-Schollaart ◽  
Jan B. Hoeksma ◽  
Jean Paul Van De Velde ◽  
Jerôme I. Puyenbroek ◽  
Birte Prahl-Andersen

The reproductive history was studied to evaluate if the three types of solitary, nonsyndromic clefts: cleft lip (CL), cleft lip and palate (CLP), and cleft palate (CP) are homogeneous entities. Occurrence of fetal loss, maternal health, and drug consumption of the mother during the pregnancy were compared in cases involving three types of clefts. Data was gathered from 87 children with clefts, 55 males and 32 females. Spontaneous abortions and vaginal bleeding were found to occur significantly more often in the (older) mother of a CLP child. This suggests that the factors involved in the etiology of CLP differ from the factors involved in CL and CP. Therefore, grouping of data of the three types of clefts in studies on the etiology should be avoided.


Revista CEFAC ◽  
2021 ◽  
Vol 23 (4) ◽  
Author(s):  
Gabriela Ribeiro Schilling ◽  
Maria Cristina de Almeida Freitas Cardoso ◽  
Paulo Sérgio Gonçalves da Silva ◽  
Marcia Angélica Peter Maahs

ABSTRACT Purpose: to describe the changes in speech and dental occlusion in children with cleft lip and palate and verify their association with each other and with the time of primary plastic surgeries. Methods: a cross-sectional study with collected data on the subjects’ identification, age at the time of primary surgeries, and clinical assessment of speech and dental occlusion. The chi-square test, Fisher's exact test, and t-test were used to verify the associations between the variables at the 5% significance level (p < 0.05). Results: the sample comprised 11 children aged 6 to 10 years, most of whom were males, self-reported white, with trans-incisive foramen cleft, predominantly on the left side. The mean age at lip repair surgery was 6 months, and 13 months at palatoplasty. Among the main dental occlusion changes, posterior and anterior crossbite stood out. All the subjects presented changed speech, with a prevalence of cases with dentoalveolar and palatine deformities, followed by passive and active changes. Subjects with anterior crossbite tended to have undergone primary lip repair surgery at a mean of four months earlier than the subjects without anterior crossbite. Conclusions: the associations between speech and dental occlusion changes, and between these and the time of primary plastic surgeries were not statistically significant. Even though it is known that early lip repair surgery is ideal to favor oral functions and aesthetics, the results revealed a tendency towards anterior crossbite, in these subjects.


2021 ◽  
Vol 38 (2) ◽  
pp. 154-158
Author(s):  
Nur DOKUZEYLUL GÜNGÖR ◽  
Tuğba GÜRBÜZ ◽  
Selma Bozkurt ZİNCİR ◽  
Banu DOKUZEYLÜL ◽  
Erman OR ◽  
...  

Cats are the main host of Toxoplasma gondii and pregnant women who own cats at home may be at risk. This condition may cause anxiety and stress in pregnant women. The aim of this study is to evaluate toxoplasmosis risk on anxiety and perception of cat owner pregnant women. The study group consisted of 59 pregnant women feeding cats in the home and 369 pregnant women not feeding cats. A Health Anxiety Inventory (HAI-18) was used to measure the anxiety of all participants. Age and anxiety variables were analyzed using a two-sample independent t-test. Gravida, education, and job status were analyzed using chi-square tests, and live to abort ratio & pregnancy number were analyzed using Fisher exact test. Measurement of the anxiety level between the two groups showed that anxiety is significantly higher among the pregnant women who feed cats in their house with an average of 32.03±8.72. The average anxiety level among the pregnant women who don't have cats in their house was 25.94±8.99. The difference between the Health Anxiety Inventory of the two groups was significant (p= 0.0001) It was shown in the literature that pets can reduce anxiety but not studied in pregnant women, yet. Our results showed that pregnant women who own cats at home had more environmental anxiety than women who don’t feed cats at home which is possibly associated with fear of Toxoplasma gondii transmission. This anxiety may also cause unfavorable pregnancy outcomes like eclampsia, preterm birth, low birth weight and high incidence of cesarean delivery.


2018 ◽  
Vol 56 (3) ◽  
pp. 390-394
Author(s):  
Yuta Nakajima ◽  
Shunsuke Yuzuriha ◽  
Fumio Nagai ◽  
Kenya Fujita ◽  
Masahiko Noguchi

Objective: In unilateral cleft lip and palate, the reconstructed nasal floor is sometimes uplifted regardless of the reconstructive method used. We used a 5-0 absorbable anchoring suture, the oronasal transfixion suture (ONT suture), to fasten the reconstructed nasal floor to the orbicularis oris muscle to prevent this deformity. This study was performed to evaluate the effects of the ONT suture. Design: Blind retrospective study of photography and chart review. Setting: Shinshu University Hospital, tertiary care, Nagano, Japan. Private practice. Patients: Ninety-three consecutive patients with unilateral complete cleft lip and palate who had undergone primary nasolabial repair in our department and affiliated hospitals between 1999 and 2011 participated in this study. Finally, 45 patients were included. Interventions: The ONT suture was put in place at the time of primary nasolabial repair. Main Outcome Measure: The height of the nasal floor was evaluated on submental view photographs at 5 years old. Results: The ONT suture was applied in 21 patients. The height of the nasal floor on the cleft side was significantly closer to that on the noncleft side with the ONT suture than without the ONT suture ( P = .008). Conclusions: The ONT suture is effective to prevent uplifted nasal floor deformity on the cleft side// in unilateral complete cleft lip and palate at the time of primary nasolabial repair.


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