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Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?
Am J Med Genet. 2002 Aug 01; 111(2):182-6.AJ

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+Show Affiliations

Department of Pediatrics, University of Siena, Siena, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12210347

Citation

Grosso, S, et al. "Familial Axenfeld-Rieger Anomaly, Cardiac Malformations, and Sensorineural Hearing Loss: a Provisionally Unique Genetic Syndrome?" American Journal of Medical Genetics, vol. 111, no. 2, 2002, pp. 182-6.
Grosso S, Farnetani MA, Berardi R, et al. Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome? Am J Med Genet. 2002;111(2):182-6.
Grosso, S., Farnetani, M. A., Berardi, R., Vivarelli, R., Vanni, M., Morgese, G., & Balestri, P. (2002). Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome? American Journal of Medical Genetics, 111(2), 182-6.
Grosso S, et al. Familial Axenfeld-Rieger Anomaly, Cardiac Malformations, and Sensorineural Hearing Loss: a Provisionally Unique Genetic Syndrome. Am J Med Genet. 2002 Aug 1;111(2):182-6. PubMed PMID: 12210347.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome? AU - Grosso,S, AU - Farnetani,M A, AU - Berardi,R, AU - Vivarelli,R, AU - Vanni,M, AU - Morgese,G, AU - Balestri,P, PY - 2002/9/5/pubmed PY - 2003/2/1/medline PY - 2002/9/5/entrez SP - 182 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 111 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/12210347/Familial_Axenfeld_Rieger_anomaly_cardiac_malformations_and_sensorineural_hearing_loss:_a_provisionally_unique_genetic_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2002&volume=111&issue=2&spage=182 DB - PRIME DP - Unbound Medicine ER -