Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models

Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies within the head and neck are orofacial clefts (OFCs) and prognathism. Orofacial clefts are disorders with a range of phenotypes such as the cleft of the lip with or without cleft palate and isolated form of cleft palate with unilateral and bilateral variations. They may occur as an isolated abnormality (nonsyndromic—NSCLP) or coexist with syndromic disorders. Another cause of malformations, prognathism or skeletal class III malocclusion, is characterized by the disproportionate overgrowth of the mandible with or without the hypoplasia of maxilla. Both syndromes may be caused by the presence of environmental factors, but the majority of them are hereditary. Several mutations are linked to those phenotypes. In this review, we summarize the current knowledge regarding the genetics of those phenotypes and describe genotype–phenotype correlations. We then present the animal models used to study these defects.

Case report on bilateral cleft palate with protuded premaxilla

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.

Maternal cigarette smoking before or during pregnancy increases the risk of birth congenital anomalies: a population-based retrospective cohort study of 12 million mother-infant pairs

Background The associations of maternal cigarette smoking with congenital anomalies in offspring have been inconsistent. This study aimed to clarify the associations of the timing and intensity of maternal cigarette smoking with 12 subtypes of birth congenital anomalies based on a nationwide large birth cohort in the USA. Methods We used nationwide birth certificate data from the US National Vital Statistics System during 2016–2019. Women reported the average daily number of cigarettes they consumed 3 months before pregnancy and in each subsequent trimester during pregnancy. Twelve subtypes of congenital anomalies were identified in medical records. Poisson regression analysis was used to estimate the risk ratios (RRs) with 95% confidence intervals (CIs) for 12 subtypes of congenital anomalies associated with the timing (i.e., before pregnancy, and during three different trimesters of pregnancy) and intensity (i.e., number of cigarettes consumed per day) of maternal cigarette smoking. Results Among the 12,144,972 women included, 9.3% smoked before pregnancy and 7.0%, 6.0%, and 5.7% in the first, second, and third trimester, respectively. Maternal smoking before or during pregnancy significantly increased the risk of six subtypes of birth congenital anomalies (i.e., congenital diaphragmatic hernia, gastroschisis, limb reduction defect, cleft lip with or without cleft palate, cleft palate alone, and hypospadias), even as low as 1–5 cigarettes per day. The adjusted RRs (95% CIs) for overall birth congenital anomalies (defined as having any one of the congenital malformations above significantly associated with maternal cigarette smoking) among women who smoked 1–5, 6–10, and ≥ 11 cigarettes per day before pregnancy were 1.31 (1.22–1.41), 1.25 (1.17–1.33), and 1.35 (1.28–1.43), respectively. Corresponding values were 1.23 (1.14–1.33), 1.33 (1.24–1.42), 1.33 (1.23–1.43), respectively, for women who smoked cigarettes in the first trimester; 1.32 (1.21–1.44), 1.36 (1.26–1.47), and 1.38 (1.23–1.54), respectively, for women who smoked cigarettes in the second trimester; and 1.33 (1.22–1.44), 1.35 (1.24–1.47), and 1.35 (1.19–1.52), respectively, for women who smoked cigarettes in the third trimester. Compared with women who kept smoking before and throughout pregnancy, women who never smoked had significantly lower risk of congenital anomalies (RR 0.77, 95% CI 0.73–0.81), but women who smoked before pregnancy and quitted during each trimester of pregnancy had no reduced risk (all P > 0.05). Conclusions Maternal smoking before or during pregnancy increased the risk of several birth congenital anomalies, even as low as 1–5 cigarettes per day. Maternal smokers who stopped smoking in the subsequent trimesters of pregnancy were still at an increased risk of birth congenital anomalies. Our findings highlighted that smoking cessation interventions should be implemented before pregnancy.

Parent/Caregiver Views of the Effectiveness of Speech-Language Pathology for Children Born With Cleft Palate Delivered via Telemedicine During COVID-19

Purpose: The purpose of this study was to describe and examine parent views of speech-language pathology (SLP) for children born with cleft palate delivered via telemedicine during the COVID-19 pandemic in the United Kingdom (UK). Method: Parents were asked whether they found this method of delivery “very effective,” “somewhat effective,” or “not at all effective.” Free text was then invited. There were 212 responses. Ordinal chi-square, Kruskal–Wallis, or Fisher's exact tests examined associations between parent views of effectiveness and biological variables and socioeconomic status. Free text responses were analyzed using qualitative content analysis. Results: One hundred and forty (66.0%) respondents reported that SLP delivered via telemedicine was “somewhat effective,” 56 (26.4%) “very effective,” and 16 (7.6%) “not at all effective.” There was no evidence of an association between parent reported effectiveness and any of the explanatory variables. Parent-reported challenges impacting on effectiveness included technology issues and keeping their children engaged with sessions. Importantly, telemedicine was viewed as “better than nothing.” Conclusions: Most parents reported that they felt SLP delivered via telemedicine during the first few months of the COVID-19 pandemic in the UK was at least “somewhat effective.” It is important to interpret this in the context of there being no other method of service delivery during this time and that this study only represents families who were able to access SLP delivered via telemedicine. Further work is needed to identify which children with cleft palate might benefit from SLP delivered via telemedicine to inform postpandemic service provision.

Risk of Malocclusion Among Patients Undergoing Single-Stage Versus Two-Stage Cleft Palate Repair

Objective Evaluate impact of single-stage versus staged palate repair on the risk of developing malocclusion among patients with cleft palate (CP). Design Retrospective cohort study 2000–2016 Setting Academic, tertiary children’s hospital. Patients Patients undergoing CP repair between 1999–2015. Interventions CP repair, categorized as either single-stage or staged. Main Outcome Measure Time to development of Class III malocclusion. Results 967 patients were included; 60.1% had a two-stage CP repair, and 39.9% had single-stage. Malocclusion was diagnosed in 28.2% of patients. In the model examining all patients at ≤5 years ( n = 659), patients who were not white had a higher risk of malocclusion (HR 2.46, p = 0.004) and staged repair was not protective against malocclusion (HR 0.98, p = 0.91). In all patients >5 years ( n = 411), higher Veau classification and more recent year of birth were significantly associated with higher hazard rates ( p < 0.05). Two-staged repair was not protective against developing malocclusion (HR 0.86, p = 0.60). In the model examining patients with staged repair ≤5 years old ( n = 414), higher age at hard palate closure was associated with reduced malocclusion risk (HR 0.67, p < 0.001) and patients who were not white had increased risk (HR 2.56, p = 0.01). In patients with staged repair >5 years old, more recent birth year may be associated with a higher risk of malocclusion (HR 1.06, p = 0.06) while syndrome may be associated with lower risk of malocclusion diagnosis (HR 0.46, p = 0.07). Conclusion Our data suggests that staged CP repair is not protective against developing Class III malocclusion.

Natural history and epidemiology of cleft lip and palate: a registry-based study in Iran (2000-19)

The aim of this study was to provide the natural history and epidemiology of cleft lip and cleft palate in the northwest region of Iran between 2000 and 2019. Since 2000, infants born with birth defects have been registered in the Tabriz Registry of Congenital Anomalies (TRoCA). For this study, the information and data were collected using the TRoCA registry system. Prevalence of cleft lip and cleft palate was 1.48 (95% CI 1.34; 1.62) per 1000 live births over the past two decades in the region. The occurrence of cleft lip and cleft palate was more common in males than females. The fetal death ratio was 5 percent of live born children. The proportion of infants with cleft lip and cleft palate surviving to the second week was 54 percent. The results may have a role in planning and evaluating the strategies for primary prevention of cleft lip and cleft palate, particularly in high-risk populations.