title: A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?
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.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon ; Department of Pathology, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Chantal
authors.initials: C
authors.lastname: Farra
authors.forename: Khaled
authors.initials: K
authors.lastname: Yunis
authors.forename: Nadine
authors.initials: N
authors.lastname: Yazbeck
authors.forename: Marianne
authors.initials: M
authors.lastname: Majdalani
authors.forename: Lama
authors.initials: L
authors.lastname: Charafeddine
authors.forename: Rima
authors.initials: R
authors.lastname: Wakim
authors.forename: Johnny
authors.initials: J
authors.lastname: Awwad
keywords: Goldenhar syndrome; diaphragmatic hernia; neural tube defect; oculo-auriculo-vertebral spectrum