New Aspects of Isotretinoin Teratogenicity
Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish in Retinoids in Dermatology, 2019
Treacher Collins syndrome (TCS), CHARGE (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth/or development, genital and/or urinary abnormalities, ear abnormalities and deafness) syndrome, DiGeorge syndrome, and fetal alcohol syndrome resemble retinoid embryopathy and share intriguing overlapping of craniofacial abnormalities (Table 10.1) (60–70). Abnormalities of the secondary palate were studied in an animal model in which features of TCS were induced by acute maternal exposure to isotretinoin (71). TCS is a congenital disorder of craniofacial development arising from mutations in TCOF1 gene, which encodes the nucleolar phosphoprotein Treacle. TCOF1-related molecular networks in TCS involve p53 (72). Haploinsufficiency of TCOF1 perturbs mature ribosome biogenesis, resulting in stabilization of p53 and cyclin G1-mediated cell-cycle arrest that underpins the specificity of neuroepithelial apoptosis and NCC hypoplasia characteristic of TCS (73,74). In an animal study, inhibition of p53-dependent apoptosis restored NCCs and prevented TCS craniofacial anomalies (75).
Common paediatric ENT viva topics
Joseph Manjaly, Peter Kullar in Advanced ENT Training, 2019
Velo-cardio-facial syndromeAlso known as DiGeorge syndrome, 22q11 deletion1:2000, autosomal dominantMakes up 5%–8% of all cleft palates20% have Pierre Robin sequenceHypoparathyroidism and absent thymusLong hypotonic flaccid facies, prominent nasal bridge, narrow nasal cavity, retrognathiaMedialised ICA (beware in adenoidectomy)Laryngeal webs and laryngomalaciaMicrotia, OME and SNHLCardiac disorders, skeletal disorders and learning difficulties
Oral Problems Associated with Gastrointestinal Disease
John F. Pohl, Christopher Jolley, Daniel Gelfond in Pediatric Gastroenterology, 2014
Cleft deformities may be syndromic or nonsyndromic in nature. The most common syndromic cleft deformity is seen with Van der Woude syndrome, an autosomal dominant disorder characterized by clefts of the lip or palate and blind sinuses, or pits of the lower lip. Syndromic clefts associated with secondary cleft palate alone include velocardiofacial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome, which are all associated with microdeletions of chromosome 22q11.2. Inheritance is autosomal dominant with considerable variability in phenotypic expression, which may include facial dysmorphism, developmental delay, cardiovascular anomalies, immunologic abnormalities, cleft palate, and velopharyngeal dysfunction.
Prevalence and incidence of psychotic disorders in 22q11.2 deletion syndrome: a meta-analysis
Published in International Review of Psychiatry, 2022
Umberto Provenzani, Stefano Damiani, Ilaria Bersano, Simran Singh, Antonella Moschillo, Tommaso Accinni, Natascia Brondino, Dominic Oliver, Paolo Fusar-Poli
The 22q11.2 deletion syndrome (22q11.2DS) is one of the most common syndromes caused by a rare Copy Number Variation, with a prevalence estimated at around 1/3000 to 1/6000 live births (McDonald-McGinn et al., 2015). In the majority of cases, it is caused by a 3 Mb hemizygous deletion in chromosomal region 22q11.2, de novo in 85–90% of cases (Delio et al., 2013; Swillen et al., 2000). The term is used to refer to a heterogeneous group of disorders that share the same genetic alteration: DiGeorge syndrome or velo-cardio-facial syndrome, Cono-Truncal Anomaly Face Syndrome, Opitz syndrome and CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities) (McLean-Tooke et al., 2007). It can affect both sexes, and it is present in different ethnic groups thus not being characteristic of Caucasians (McDonald-McGinn et al., 1999), but it has a higher prevalence in western countries (Park et al., 2007). The gold-standard diagnostic test is fluorescence in situ hybridisation (Bretelle et al., 2010), while other recent techniques include multiplex ligation-dependent probe amplification (which uses probes directed towards the entire 22q11 region) and microarray comparative genome hybridisation (Morrow et al., 2018).
A comparison of self-esteem and social appearance anxiety levels of individuals with different types of malocclusions
Published in Acta Odontologica Scandinavica, 2021
Ezgi Atik, Mehmet Mert Önde, Silvi Domnori, Saliha Tutar, Okan Can Yiğit
The following inclusion criteria were assessed for the present study: (1) patients aged between 12 and 18 years, (2) patients with the presence of all permanent teeth, (3) patients with reading and comprehension ability, (4) patients having cephalometric evaluation file, maxillary and mandibular impression dental models before orthodontic treatment for diagnostic purposes and (5) patients clinically assessed by one operator to identify ICON score. The exclusion criteria for the present study were: (1) the presence of any congenital craniofacial deformity (cleft lip and palate or any craniofacial syndrome or deformity) and (2) patients who have already initiated or completed orthodontic treatment. Besides, subjects with a history of organic or psychiatric disease, presence of caries, facial asymmetry and any skin deformity affecting facial aesthetics were also excluded from the study as all these factors could effect the results of the study by influencing the perception of appearance.
Economic burden of congenital athymia in the United States for patients receiving supportive care during the first 3 years of life
Published in Journal of Medical Economics, 2021
Cathleen Collins, Julie J. Kim-Chang, Elena Hsieh, Abigail Silber, Matthew O’Hara, Sarah Kulke, Megan A. Cooper
Congenital athymia is an ultra-rare (defined as prevalent in no more than 1:50,0001) pediatric condition characterized by the lack of thymic development in utero resulting in profound immunodeficiency2. Congenital athymia is typically associated with several genetic and syndromic conditions, including 22q11.2 deletion syndrome, complete DiGeorge syndrome, CHARGE (coloboma, heart defect, choanal atresia, growth or mental retardation, genital hypoplasia, and ear anomalies or deafness) syndrome, forkhead box protein N1 (FOXN1) deficiency, and diabetic embryopathy3,4. Patients are currently often first identified by low or undetectable T cell receptor excision circles (TRECs) during newborn screening for severe combined immunodeficiency (SCID), testing, which is required in all 50 states in the United States (US) as of 20185,6. Subsequent evaluations of complete and differential blood cell counts and lymphocyte phenotyping by flow cytometry reveal profoundly low naïve T cell counts. While there is no uniformly agreed on naïve T cell number that defines congenital athymia, one center in the US has used fewer than 50 naïve T cells per cubic millimeter (mm3) or less than 5% of all T cells naïve in type to confirm a diagnosis of congenital athymia4.
Related Knowledge Centers
- Chromosome 22
- Congenital Heart Defect
- Hearing Loss
- Intellectual Disability
- Kidney Failure
- Schizophrenia
- Autoimmune Disease
- Rheumatoid Arthritis
- Global Developmental Delay
- Cleft Lip & Cleft Palate