Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

Gil-da-Silva-Lopes, Vera Lúcia; Atique-Tacla, Milena; Vieira, Társis Paiva; Monlleó, Isabella Lopes

doi:10.1002/ajmg.c.31852

Cited by 8 publications

(5 citation statements)

References 73 publications

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“…OCs, the most frequent craniofacial congenital anomalies, are often associated with other congenital anomalies (Gil‐da‐Silva‐Lopes et al, 2020). These associated anomalies are responsible of the morbidity and the mortality associated with OCs (Auslander et al, 2021; Williams et al, 2007).…”

Section: Discussionmentioning

confidence: 99%

Co‐occurring anomalies in congenital oral clefts

Stoll

Alembik

Roth

2022

American J of Med Genetics Pt A

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Oral clefts (OCs) are frequently co-occurring with other non-OC congenital anomalies. The types and the prevalence of anomalies co-occurring with OCs vary in the reported studies. The aims of this report were to study the types and the prevalence of the anomalies co-occurring with OCs in a well-defined population. The types and the prevalence of anomalies co-occurring in cases with OCs were ascertained in all terminations of pregnancy, stillbirths, and live births in 387,067 births occurring consecutively during the period 1979-2007 in the area covered by our registry of congenital anomalies which is population based, 789 cases of OCs were registered during the study period with a prevalence of 20.4 per 10,000 births, 39.5% of the cases had associated non-OC anomalies. Associated anomalies were more common in cases with cleft palate (52.4%) than in cases with cleft lip and palate (37.3%) and in cases with cleft lip only (16.8%). Chromosomal abnormalities were present in 94 (11.9%) cases including 27 trisomies 13, 15 trisomies 18, 12 22 q11.2 deletion, and 40 other chromosomal abnormalities. Nonchromosomal recognizable conditions were diagnosed in 38 cases (4.8%) including syndromes, associations, spectrums and sequences. Multiple congenital anomalies (MCAs) were present in 180 cases (22.8%).The most frequent MCA were in the musculoskeletal system (16.7%), the central nervous system (15.0%), the urogenital system (13.7%), the cardiovascular system (8.6%), and the digestive system (6.6%). The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with OCs. K E Y W O R D S associated anomalies, cleft lip, cleft lip and palate, cleft palate, congenital anomalies, oral clefts 1 | INTRODUCTION Oral clefts (OCs), a heterogeneous group of congenital anomalies affecting the structure of the oral cavity and the face, are the most common craniofacial anomalies in humans. They are a substantial societal and personal burden. They have been classified into three types depending if they involve the lip only (CL), the lip and palate (CLP), and the palate only (CP) (Leslie & Marazita, 2013). According to their different embryologic nature, their epidemiologic features, and their types of segregation into families, they are divided into two types: cleft lip and palate (CLP) and cleft palate (CP) (Fraser, 1970;Murray, 2002). Although CLP can be split into cleft lip (CL) and cleft lip and palate (CLP), most epidemiologic studies consider them as a single group because they are pathogenetically similar (Genisca et al., 2009).The causes of OCs are chromosome abnormalities, teratogens, vascular disruption, known syndromes, familial occurrence, single mutant genes, and unknown causes (Stoll et al., 1991). Mossey et al. (2009 proposed that the building of the oral cavity requires series of complex events needing programs that must be coordinate for cellular growth, differentiation, and apoptosis. In human at the 4th week of development of the primitive oral cavity the neural crest c...

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Section: Discussionmentioning

confidence: 99%

Co‐occurring anomalies in congenital oral clefts

Stoll

Alembik

Roth

2022

American J of Med Genetics Pt A

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“…We analysed primary data of 111 individuals with 22q11.2DS, from BDCA, linked to BCFP (14,19). This data was collected from 2008 to 2020.…”

Section: Methodsmentioning

confidence: 99%

“…Brazil's Craniofacial Project (BCFP) is a voluntary, multicenter and inter-institutional initiative. BCFP aims to improve health care for individuals with craniofacial alterations from the production of scienti c evidence to subsidize public policies (14). Since 2006, BCFP has acted in the development of strategies to increment the diagnosis of 22q11.2DS, such as re nement of the common phenotype and registration of clinical follow-ups in the Brazilian Database on Craniofacial Anomalies (BDCA) (8, 15).…”

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confidence: 99%

An Overview of the Trajectory of Brazilian Individuals with 22q11.2 Deletion Syndrome Until Diagnosis.

Silva

Gil-da-Silva-Lopes

2021

Preprint

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Background: 22q11.2 Deletion Syndrome (22q11.2DS) is a rare disease that has as an important characteristic the clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic updating of health professionals so that they can recognize this clinical signs as belonging to 22q11.2DS. Updated health professionals are equally important for the appropriate and timely establishment of clinical management for individuals with a positive diagnosis. In this context, this article aimed to map and analyse the access to health care for individuals with 22q11.2DS until the moment of diagnosis. Results: We analysed clinical data of 111 individuals with 22q11.2DS registered in the Brazilian Database on Craniofacial Anomalies (BDCA) from 2008 to 2020. In this study, individuals were diagnosed with a median age of 9 years (mean = 9.7 years). Before genetic investigation, they accessed 68.75% of the international recommended evaluations available at BDCA. Recurrent 22q11.2DS clinical manifestations as delayed neuropsychomotor development, lip and/or palate defects, cardiac malformation and/or hematological/immunological alteration co-occurred in at least 72.06% of individuals. Cardiac malformation was the only clinical alteration that led to a lower median diagnostic age, corresponding to 6.5 years of age with a cardiac malformation versus 11 years of age without a cardiac malformation (p = 0.0006). Conclusions: In Brazil, 22q11.2 DS is under recognized and early diagnosis and management of affected individuals are still a distant reality. In this sense, the identification followed by the correction of obstacles that do not allow this reality are essential to increase life expectancy and improve the quality of life of these individuals in Brazil

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“…This study used primary data recorded through the Brazilian Database on Craniofacial Anomalies (BDCA) and biological samples from its associated biorepository and by the 10 other BDCA-collaborating hospitals located in the Northeast, Southeast and Southern regions of Brazil [9,10]. The nal cohort was composed of 17 non-related individuals with OC-MAC.…”

Section: Cohortmentioning

confidence: 99%

Molecular investigation in Orofacial Clefts with Microphthalmia-Anophthalmia-Coloboma spectrum

Gil-da-Silva-Lopes

Atique-Tacla

Copelli

et al. 2023

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Orofacial clefts (OC) are the most common birth defects in humans and approximately 30% of them form the group of syndromic orofacial clefts (SOCs). Microphthalmia/anophthalmia/coloboma spectrum (MAC) can be associated with OC, however the genetic etiologies of OC-MAC have been poorly characterized. This study describes genomic findings among individuals with OC-MAC recorded in the Brazilian Database on Craniofacial Anomalies (BDCA). Chromosomal microarray analysis (CMA) and Whole exome sequencing (WES) were performed in 17 individuals with OC-MAC. Genotype-phenotype correlation was based on clinical data available at the BDCA and on re-examination. No copy number variants (CNVs) classified as likely pathogenic or pathogenic were detected by CMA. WES allowed a conclusive diagnosis in six individuals (35.29%), two of them involving the CHD7 gene. Variant of uncertain significance (VUS) possibly associated to the phenotypes were found in six other individuals. Among the individuals with VUSes, three individuals presented variants in genes associated to defects of cilia structure and/or function. Investigation by WES seems to be the most effective method for diagnosis in OC-MAC. This study also reinforces the genetic heterogeneity of OC-MAC, highlights the presence of the CHD7 gene, and the importance of genes related to ciliopathies in this phenotype.

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Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

Cited by 8 publications

References 73 publications

Co‐occurring anomalies in congenital oral clefts

Co‐occurring anomalies in congenital oral clefts

An Overview of the Trajectory of Brazilian Individuals with 22q11.2 Deletion Syndrome Until Diagnosis.

Molecular investigation in Orofacial Clefts with Microphthalmia-Anophthalmia-Coloboma spectrum

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