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Fetal Alcohol Syndrome
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Margaret P. Adam, H. Eugene Hoyme
Fetal alcohol syndrome shares many common features with velocardiofacial syndrome (VCFS). Patients with VCFS can have short palpebral fissures, malar hypoplasia, microcephaly, and learning disabilities. However, patients with VCFS also can have a broad nasal root with bulbous nasal tip, deficiency of the alae nasi, hypocalcemia, and long and slender fingers. Although patients with FAS can have congenital heart defects, patients with VCFS have a higher prevalence of congenital heart defects, most commonly of the conotruncal type. Velocardiofacial syndrome is caused by a microdeletion on chromosome 22q11, which can be confirmed with a fluorescence, in situ hybridization (FISH) analysis using a probe specific to this deleted region.
The Child with a Syndrome
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Thushitha Kunanandam, Haytham Kubba
22q11 deletion syndrome encompasses the clinical conditions previously termed velocardiofacial syndrome and Di George syndrome which are now known to be different manifestations of the same genetic defect. A variety of clinical features can occur but not in every child.10 Common features include submucous cleft palate, congenital heart anomalies, absent thymus with impairment of T-cell immunity (Di George sequence) and characteristic facial features. The ENT clinical features result from abnormal development of structures derived from the third and fourth pharyngeal pouches. The first presentation to medical services may well be with recurrent episodes of AOM due to the impaired T-cell immunity. Another presentation to the otolaryngologist is with a congenital glottic web which is almost always diagnostic of 22q11 deletion (see Chapter 30, Congenital disorders of the larynx, trachea and bronchi).11,12 Again, the phenotypic profile is highly variable and awareness and suspicion are key. If there is suspicion of 22q11, full ENT assessment including laryngoscopy should be performed and referral to a geneticist and cardiologist initiated.13
Musculoskeletal disorders and connective tissue disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Velocardiofacial syndrome consists of three symptoms, namely congenital heart abnormalities, cleft palate (a gap in the roof of the mouth) and a characteristic facial appearance. In almost all afected individuals, genetic studies show that a piece of chromosome 22 is missing by fluorescence in-sifu hybridisation (FISH) analysis. This is known as the 22q11 deletion, which occurs 1 in 4000 members of the population.
Blood brain barrier permeability increases with age in individuals with 22q11.2 deletion syndrome
Published in The World Journal of Biological Psychiatry, 2022
Michal Taler, Ehud Mekori–Domachevsky, Elfi Vergaelen, Stephan Claes, Yaffa Serur, Shira Dar, Yael Levy-Shraga, Abraham Weizman, Ann Swillen, Doron Gothelf
The 22q11.2 deletion syndrome (22q11.2DS), also known as velocardiofacial syndrome or DiGeorge syndrome, is caused by a microdeletion in the long arm of chromosome 22, with an estimated prevalence varying between 1 per 3000 and 1 per 6000 live births (McDonald-Mcginn and Sullivan 2011). The phenotype of 22q11.2DS involves multiple organs, including typical facial features, cleft palate and congenital cardiovascular anomalies, as well as hypocalcaemia and immunological abnormalities. Most individuals with 22q11.2DS sustain at least one psychiatric disorder, including schizophrenia, attention deficit/hyperactivity disorder (ADHD) and anxiety disorders (Schneider et al. 2014). About one-third of individuals with 22q11.2DS develop schizophrenia-like psychotic disorders, making it the most common genetic syndrome currently associated with schizophrenia (Schneider et al. 2014). And yet, the processes that lead to the evolution of psychosis are largely unknown in both 22q11.2DS and non-syndromic schizophrenia. One of the suggested pathways is anomalies of the microvasculature of the brain and specifically the blood-brain barrier (BBB) (Najjar et al. 2017).
Association between near viewing and acute acquired esotropia in children during tablet and smartphone use
Published in Strabismus, 2022
Esther Van Hoolst, Liesbet Beelen, Ivo De Clerck, Louise Petit, Irina Balikova, Ingele Casteels, Maria Dieltiëns, Catherine Cassiman
All ten patients (eight boys and two girls) presented at our clinic with convergent strabismus and diplopia (Table 1). The onset of symptoms started between one day and two years prior and was thought to be associated with excessive tablet or smartphone use. Three children complained of an associated headache. The mean age of onset was 9.8 years (range 5–15 years). Three out of ten patients already wore spectacles (two patients with mild hyperopic correction, one patient with mild myopic correction). Two patients had a history of strabismus (esotropia): one patient was treated in the past with occlusion therapy for anisometropic amblyopia. The second patient had a history of left esotropia and secondary amblyopia. No family history of strabismus was noted, except in one patient who had a sister with esotropia. Considering their general health status, one patient had severe attention deficit hyperactivity disorder, one patient had known nail patella syndrome and one patient had genetically confirmed velocardiofacial syndrome.
Primary Immunodeficiency and Thrombocytopenia
Published in International Reviews of Immunology, 2022
Maryam Mohtashami, Azadehsadat Razavi, Hassan Abolhassani, Asghar Aghamohammadi, Reza Yazdani
The DiGeorge/velocardiofacial syndrome (DGS/VCFS) has been recognized as a frequent syndrome in humans and microdeletion of the 22q11.2 regions is introduced as the main cytogenic aberration in these patients. Cardiac defects, T-cells deficiencies and thrombocytopenia are reported in this syndrome [100, 101]. A high percentage of 22q11.2 deletion patients (more than 90%) are heterozygous for a deletion of the GPIb gene, hence, Bernard-Soulier syndrome (BSS) is expected in these patients supposing a reason for thrombocytopenia [54]. Macrothrombocytopenia is usually mild in BSS patients; however, another study has been reported that DGS patients with decreased count platelet have large mean platelet volume (MPV) and macrothrombocytopenia. On the other hand, immunologic responses are considered as the main factor of thrombocytopenia in some cases. Consequently, further studies are needed to determine thrombocytopenia prevalence in DGS patients [102, 103].