Malocclusions and craniofacial anomalies in a child with velo-cardio-facial syndrome.

Dev Period Med

Orthodontic Department for Children, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, tel. (+48 22) 32-77-128, e-mail:

Published: May 2016

Velo-Cardio-Facial syndrome (VCFS), also called 22q11.2 microdeletion syndrome, is a rare pathology. The syndrome is caused by 22q11.2 deletion, recognized as one of the most frequent pathogenic human microdeletions. The scope and severity of the phenotypic expression of 22q11.2 microdeletion is characterised by high variability, although cleft palate and congenital conotruncal malformations are among the clinical features often associated with that syndrome. In the presented case of a boy patient with submucous cleft palate and congenital cardiac defect, 22q11.2 microdeletion was identified at the age of 13 months. In the presented paper particular emphasis was placed on the issue of dental and orthodontic care in patients with changes in the oral cavity and the craniofacial area, as well as on the possibilities of treatment and prophylaxis. The necessity to perform a thorough examination of the oral cavity in infants was also underlined as a vital element of clinical assessment, in particular in the case of co-occurring structural defects of internal organs.

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Case Report: Ménière's Disease-Like Symptoms in 22q11.2 Deletion Syndrome.

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Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea.

Article Synopsis
  • The 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder linked to various health issues, including heart defects, developmental delays, and hearing impairments due to ear malformations.
  • A case study describes a 38-year-old male with 22q11.2DS who experienced fluctuating hearing loss and vertigo similar to Ménière's disease over a decade.
  • Medical tests revealed issues like abnormal ear structures and endolymphatic hydrops, suggesting that problems with fluid flow in the ear can lead to acute vertigo and hearing loss in individuals with 22q11.2DS.
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