Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome?
Article first published online: 25 JUL 2002
Copyright © 2002 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 111, Issue 2, pages 182–186, 1 August 2002
How to Cite
Grosso, S., Farnetani, M.A., Berardi, R., Vivarelli, R., Vanni, M., Morgese, G. and Balestri, P. (2002), Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome?. Am. J. Med. Genet., 111: 182–186. doi: 10.1002/ajmg.10493
- Issue published online: 25 JUL 2002
- Article first published online: 25 JUL 2002
- Manuscript Accepted: 3 MAR 2002
- Manuscript Received: 5 SEP 2000
- Axenfeld-Rieger anomaly;
- Axenfeld-Rieger syndrome;
- heart valves defects;
- sensorineural hearing loss;
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. © 2002 Wiley-Liss, Inc.