Objective: The aim was to provide epidemiological and clinical data on patients with orofacial clefts in Lower Saxony in Germany.
Materials And Methods: The records of 404 patients with orofacial clefts treated surgically at the University Medical Center Goettingen from 2001 to 2019 were analyzed in this retrospective study. Prevalence of orofacial clefts in general, orofacial clefts as manifestation of a syndrome, sex distribution, and prevalence of different cleft types was evaluated and associated with the need for corrective surgery, family history, pregnancy complications, and comorbidities.
Results: The prevalence of orofacial clefts for Goettingen in Lower Saxony was 1:890. 231 patients were male and 173 were female. CLP was most common (39.1%) followed by CP (34.7%), CL (14.4%), CLA (9.9%), and facial clefts (2%). The left side was more frequently affected and unilateral cleft forms occurred more often than bilateral ones. Almost 10% of the population displayed syndromic CL/P. 10.9% of all patients had a positive family history regarding CL/P, predominantly from the maternal side. Pregnancy abnormalities were found in 11.4%, most often in the form of preterm birth. Comorbidities, especially of the cardiovascular system, were found in 30.2% of the sample. 2.2% of patients treated according to the University Medical Center Goettingen protocol corrective surgery was performed in form of a velopharyngoplasty or residual hole closure.
Conclusions: The epidemiological and clinical profile of the study population resembled the expected distributions in Western populations. The large number of syndromic CL/P and associated comorbidities supports the need for specialized cleft centers and interdisciplinary cleft care.
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http://dx.doi.org/10.1007/s00784-023-05187-9 | DOI Listing |
Maxillofac Plast Reconstr Surg
January 2025
Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Damascus University, Damascus, Syrian Arab Republic.
Background: An orofacial cleft significantly impacts the oral health-related quality of life of children and teenagers. Secondary reconstruction is a more complex procedure due to tissue deficiency and scarring. The study aimed to evaluate the use of Pfeifer's wave-line incision method and the rotational flap method in the secondary reconstruction of unilateral lip clefts in patients with unilateral cleft lip and ala nasi aged 5-25 years utilizing anthropometry assessment.
View Article and Find Full Text PDFEur Child Adolesc Psychiatry
December 2024
Department of Plastic Surgery, Evelina Hospital, St Thomas' Hospital, London, UK.
Individuals with orofacial clefts (OFCs) may be at an increased risk of developing autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). This systematic review provides a summary of the most recent data regarding the prevalence of ASD and ADHD in the OFC population and compares this to the general paediatric population. Multiple databases were searched including PubMed/Medline and Embase in July 2024, following the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines and was registered in PROSPERO (CRD42024565219).
View Article and Find Full Text PDFNon-syndromic orofacial clefts (NSOC) are common craniofacial birth defects, and result from both genetic and environmental factors. NSOC include three major sub-phenotypes: non-syndromic cleft lip with palate (NSCLP), non-syndromic cleft lip only (NSCLO) and non-syndromic cleft palate only (NSCPO), NSCLP and NSCLO are also sometimes grouped as non-syndromic cleft lip with or without cleft palate (NSCL/P) based on epidemiology. Currently known loci only explain a limited proportion of the heritability of NSOC.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Burns and Plastic Surgery, University Hospital Brno, Jihlavska 20, Brno, 62500, Czech Republic.
Background: Ring 18 chromosome is a rare chromosomal aberration associated with a wide range of symptoms affecting all organ systems. One possible symptom associated with this condition is an orofacial cleft. However, to date, there are very few reported cases where the cleft has been surgically treated.
View Article and Find Full Text PDFEur J Hum Genet
December 2024
Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Orofacial clefting (OFC) is a frequent congenital anomaly and can occur either in the context of underlying syndromes or in isolation (nonsyndromic). The two common OFC phenotypes are cleft lip with/without cleft palate (CL/P) and cleft palate only (CPO). In this study, we searched for penetrant CL/P genes, by evaluating de novo copy number variants (CNV) from an exome sequencing dataset of 50 nonsyndromic patient-parent trios.
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