ArticleAmerican journal of medical genetics. Part A2009
Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.
Article in American journal of medical genetics. Part A, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 104 citations in OpenAlex.
- Article
- A Proposal for the Classification of Temporomandibular Joint Disc Deformity in Hemifacial Microsomia.Bioengineering (Basel, Switzerland) · 2023Article
- Article
- A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.BMC pediatrics · 2022Article
- Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).International journal of molecular sciences · 2021Article
- Copy number variation (CNV) identification, interpretation, and database from Brazilian patients.Genetics and molecular biology · 2020Article
- Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review.AJNR. American journal of neuroradiology · 2018Review
- A novel de novo mutation in MYT1, the unique OAVS gene identified so far.European journal of human genetics : EJHG · 2017Article
- Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.European journal of human genetics : EJHG · 2016Article
- CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Cardiology in the young · 2016Review
- Microtia: epidemiology and genetics.American journal of medical genetics. Part A · 2012Review
- Laryngomalacia: disease presentation, spectrum, and management.International journal of pediatrics · 2012Article
- Anesthesia challenges for emergency surgery in a pediatric patient with congenital laryngomalacia.Saudi journal of anaesthesiaArticle
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Authors and funding
7 authors at 6 institutions in 2 countries.
Funding
Abstract
We report on three unrelated patients with the 22q11.2 microdeletion syndrome (del22q11) who have phenotypic anomalies compatible with oculo-auriculo-vertebral spectrum (OAVS). Hemifacial microsomia, unilateral microtia, hearing loss, congenital heart/aortic arch arteries defects, and feeding difficulties were present in all three patients. Additional anomalies occasionally diagnosed included coloboma of the upper eyelid, microphthalmia, cerebral malformation, palatal anomalies, neonatal hypocalcemia, developmental delay, and laryngomalacia. Several clinical features characteristic of OAVS have been described in patients with del22q11 from the literature, including ear anomalies, hearing loss, cervical vertebral malformations, conotruncal cardiac defects, renal malformations, feeding and respiratory difficulties. Atretic ear with facial asymmetry has been previously described in one patient. Thus, clinical expression of hemifacial microsomia and microtia resembling OAVS should now be included within the wide phenotypic expression of del22q11. The occurrence of this manifestation in del22q11 is currently low. Nevertheless, patients with hemifacial microsomia and microtia associated with clinical features typically associated with del22q11 should now have for specific cytogenetic testing.
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