title: Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.
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.
authors.affiliation: Department of Medical Genetics, Bambino Gesú Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy. digilio@opbg.net
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Carrie
authors.initials: C
authors.lastname: Heike
authors.forename: Charles
authors.initials: C
authors.lastname: Catania
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Bruno
authors.initials: B
authors.lastname: Marino
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D019066:Facies; D005260:Female; D006053:Goldenhar Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy