A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder

Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder Case report (2442) Total Article Views Authors: Farra C, Yunis K, Yazbeck N, Majdalani M, Charafeddine L, Wakim R, Awwad J Published Date July 2011 Volume 2011:4 Pages 93 - 97 DOI: http://dx.doi.org/10.2147/TACG.S12643 Chantal Farra1,2, Khaled Yunis1, Nadine Yazbeck1, Marianne Majdalani1, Lama Charafeddine1, Rima Wakim1, Johnny Awwad3 1Department of Pediatrics and Adolescent Medicine, 2Department of Pathology, 3Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon Abstract: Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have an autosomal recessive inheritance and other families' presentation of the syndrome strongly supported an autosomal dominant inheritance. We report OAV in a female infant presenting with tracheomalacia, diaphragmatic hernia, encephalomeningocele, sacral neural tube defect, and cardiac defect and her brother having no more than dysmorphic features. The mode of inheritance in this family supports an autosomal recessive inheritance where the transmission was from normal first-degree consanguineous parents to one of the sons and to the daughter. This report further broadens the clinical presentation and symptoms of OAV and supports the hypothesis advancing OAV as a genetically heterogeneous disorder.