title: Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?
abstract: Axenfeld-Rieger anomaly (ARA) is an autosomal dominant disorder of the anterior chamber of the eye that includes a prominent and anteriorly displaced Schwalbe line and an iridocorneal synechiae, and is associated with iris hypoplasia, corectopia, and hole formation. Extraocular developmental abnormalities, especially of the teeth, facial bones, and periumbilical skin, have also been reported with ARA, in the context of the so-called Axenfeld-Rieger syndrome (ARS). Genetic heterogeneity exists, as ARA maps to chromosome 6p25, whereas ARS can be linked to both chromosome 4q25 and chromosome 13q14. Here we describe a new family in which ARA is associated with cardiac malformations and sensorineural hearing loss. No abnormalities of the teeth, facial bone, or periumbilical skin, which are considered of paramount importance in the diagnosis of ARS, were observed in our patients. Genetic studies will clarify if these patients represent a unique phenotypic expression of ARS or constitute the clinical presentation of a new genetic syndrome.
authors.affiliation: Department of Pediatrics, University of Siena, Siena, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Grosso
authors.forename: M A
authors.initials: MA
authors.lastname: Farnetani
authors.forename: R
authors.initials: R
authors.lastname: Berardi
authors.forename: R
authors.initials: R
authors.lastname: Vivarelli
authors.forename: M
authors.initials: M
authors.lastname: Vanni
authors.forename: G
authors.initials: G
authors.lastname: Morgese
authors.forename: P
authors.initials: P
authors.lastname: Balestri
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000869:Anterior Eye Segment / Q000002:abnormalities* / Q000473:pathology; D002894:Chromosomes, Human, Pair 4; D002896:Chromosomes, Human, Pair 6; D019465:Craniofacial Abnormalities; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005147:Facial Bones; D005260:Female; D005901:Glaucoma / Q000235:genetics / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D006344:Heart Septal Defects, Atrial / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014071:Tooth Abnormalities