Co‐occurring anomalies in congenital oral clefts

Abstract

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...

Genetics and orofacial clefts: a clinical perspective

“…In the DDD study, 21 the most common associations, unsurprisingly, were under the Human Phenotype Ontology 24 term 'abnormalities of the head and neck' and included terms referring to facial dysmorphology, such as 'hypertelorism' and 'micrognathia' . This was followed closely by 'abnormalities of the musculoskeletal system' , also reported in the study by Stoll et al 25 CPO was, in particular, commonly seen in syndromes where genes affected neurodevelopment.…”

“…Antenatal folic acid supplements have received much attention in the prevention of clefts. 25 In those with a genetic form of cleft, there is no evidence to indicate that these will alter the course of disease; monogenic causes of clefting are rarely linked to the folate metabolism pathway. In the isolated, non-genetic forms with a multifactorial aetiology, intake of normal dose folic acid (400 micrograms/day) may be protective.…”