China
Africa
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Cleft Lip, Cleft Palate, and Velopharyngeal Insufficiency
Published in Niall MH McLeod, Peter A Brennan, 50 Landmark Papers every Oral & Maxillofacial Surgeon Should Know, 2020
This paper starts with the learning objectives and a summary, which provides a useful introduction and sets the tone for the paper. After reading this article, the participant should be able to: Recognise the clinical features associated with unilateral cleft lip, bilateral cleft lip, the cleft lip nasal deformity, cleft palate and velopharyngeal insufficiency (VPI).Describe the most frequently used techniques for repair of cleft lip and palate.Diagnose and treat VPI.
Genetics and metabolic disorders
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
Maternal diabetes increases the risk of congenital heart disease and spinal malformations. Optimal control minimizes this risk. Excessive maternal ingestion of alcohol increases the risk of microcephaly, growth retardation, intellectual deficit and facial dysmorphism. Maternal ingestion of phenytoin is also associated with a syndrome of low birth weight, mental retardation, unusual facies and congenital heart defect. The incidence of cleft lip and palate is increased. The ingestion of salicylates during pregnancy is not considered to have any teratogenic effect and neither is maternal smoking.
Oral and craniofacial disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Before genetic counselling is given, a careful examination must be made to exclude the numerous syndromal associations with clefting. In some of these (e.g. chromosomal trisomies), the other defects are obvious, while in others, e.g. the Van der Woude (lip pits) syndrome (IRF6 at chromosome 1q), they may be inconspicuous and even absent in some family members. Maternal teratogens (notably anticonvulsants) must also be considered. The most important syndromes to recognise are those that follow Mendelian inheritance; Box 17.1 lists some of the major ones. Cleft lip and palate also occur with other malformations in a non-specific manner and are more common than one might expect. If a careful search for a specific syndrome proves negative, one is forced to use the empirical risks for the abnormalities in isolation. Intriguing associations and interactions of oral clefts have been found with numerous gene loci, including genes in the folate and TGF-β pathways, but there has been a dearth of consistency in these results.
First trimester prenatal detection of mosaic trisomy 8
Published in Journal of Obstetrics and Gynaecology, 2021
Li Wan, Dan Yang, Bi-Qiu Xu, Li Zhen, Yan-Dong Yang, Dong-Zhi Li
A 37-year-old G2P1 woman was referred to our centre for prenatal diagnosis at 11 weeks of gestation. She had a healthy 6-year-old girl. The mother had a routine first-trimester scan at another clinic with her nuchal translucency (NT) measured 1.0 mm. She opted for cell-free DNA-based NIPT instead of a direct invasive procedure after a detailed genetic counselling. The NIPT result was available at 12 weeks of gestation, and reported a low risk for common aneuploidies, but a high risk for trisomy 8 (Z-score 9.44) (Figure 1(A)). Considering the very low positive predictive values (PPVs) of rare autosomal trisomies (RATs) in NIPT, follow-up ultrasound examinations were recommended. A first-trimester anatomic scan revealed cleft palate in the foetus with a crown rump length of 5.3 mm and NT thickness of 1.8 mm (Figure 1(B)). No other obvious anomalies were noted. After another genetic counselling, the woman opted for genetic testing by amniocentesis. At 16 weeks of gestation, a repeat scan confirmed the cleft lip and palate with no other notable findings. Amniocentesis was offered at 16 weeks, and a microarray analysis using CytoScan 750 K Array (Affymetrix Inc., Santa Clara, CA) revealed a male karyotype with an estimated 40% mosaicism for trisomy 8. The cell culture, however, showed a chromosome formula of 46,XY in 50 metaphases examined.
Nano-hydroxyapatite use in dentistry: a systematic review
Published in Drug Metabolism Reviews, 2020
Ioana Roxana Bordea, Sebastian Candrea, Gabriela Teodora Alexescu, Simion Bran, Mihaela Băciuț, Grigore Băciuț, Ondine Lucaciu, Cristian Mihail Dinu, Doina Adina Todea
The most common congenital craniofacial defect is the cleft lip and palate, with a prevalence of 1 in 500-1000 live-born babies. Al-Ahmady et al. (2018) compared the efficiency of a bone grafting material that contained nano-HA with the gold standard of this procedure––autologus bone-graft from iliac crest bone. The graft was a combination of autologous bone marrow mononuclear cells (BMMNCs), collagen sponge, nano-HA and autologous PRF (platelet- rich-fibrin). They used 20 patients with ages between 8 and 15 years old that received one of the grafting materials, after being divided equally in two groups. They observed in a 12-month follow-up time that 70% of the patients that received autologous graft had a complete bone union compared to 90% from the nano-HA group. Also, the patients that received the regenerative treatment showed less postoperative pain and complications, as well as faster and better soft tissue healing.
Surgical, speech, and hearing outcomes at five years of age in internationally adopted children and Swedish-born children with cleft lip and/or palate
Published in Journal of Plastic Surgery and Hand Surgery, 2020
Johnna Sahlsten Schölin, Åsa Jonasson, Jessica Axelsson, Christina Havstam, Christina Persson, Radi Jönsson, Hans Mark
In an attempt to perform a comparative study and meet the scientific criteria previously mentioned, a Swedish study by Larsson et al. was published in 2017 on children with unilateral cleft lip and palate (UCLP) [8]. IAC from China and Swedish-born non-adopted children were matched in terms of age and cleft type and compared at 3 years of age. Significantly fewer correct consonants and a higher prevalence of glottal articulation and VPI were found in the IAC group compared to the non-adopted children. Furthermore, many IAC had to be excluded from the study due to sparse speech material, indicating severe speech difficulties at age 3. Hearing was also taken into consideration and revealed a low prevalence of hearing loss in the IAC group (16.7% vs. 41.2%) when compared to a group of Swedish-born children with the same cleft type.