Document Detail

Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?
MedLine Citation:
PMID:  12210347     Owner:  NLM     Status:  MEDLINE    
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.
S Grosso; M A Farnetani; R Berardi; R Vivarelli; M Vanni; G Morgese; P Balestri
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  111     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2002 Aug 
Date Detail:
Created Date:  2002-09-04     Completed Date:  2003-01-31     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  182-6     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Department of Pediatrics, University of Siena, Siena, Italy.
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MeSH Terms
Anterior Eye Segment / abnormalities*,  pathology
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 6
Craniofacial Abnormalities
Eye Abnormalities / genetics*,  pathology
Facial Bones
Glaucoma / genetics,  pathology
Hearing Loss, Sensorineural / genetics*,  pathology
Heart Septal Defects, Atrial / genetics*,  pathology
Middle Aged
Tooth Abnormalities

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