How to cite this article: Digilio MC, McDonald-McGinn DM, Heike C, Catania C, Dallapiccola B, Marino B, Zackai EH. 2009. Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet Part A 149A:2860–2864.
Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2†
Version of Record online: 3 NOV 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 12, pages 2860–2864, December 2009
How to Cite
Digilio, M. C., McDonald-McGinn, D. M., Heike, C., Catania, C., Dallapiccola, B., Marino, B. and Zackai, E. H. (2009), Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am. J. Med. Genet., 149A: 2860–2864. doi: 10.1002/ajmg.a.33034
- Issue online: 24 NOV 2009
- Version of Record online: 3 NOV 2009
- Manuscript Accepted: 29 JUN 2009
- Manuscript Received: 24 NOV 2008
- deletion 22q11.2;
- Goldenhar syndrome;
- hemifacial microsomia;
- oculo-auriculo-vertebral spectrum;
- velo-cardio-facial syndrome
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. © 2009 Wiley-Liss, Inc.