Tags

Type your tag names separated by a space and hit enter

Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family.
Clin Dysmorphol. 2010 Apr; 19(2):56-61.CD

Abstract

Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder characterized by anomalies of the anterior segment of the eye, face, teeth, and umbilicus. Many other extraocular findings, including congenital heart defects, have been reported in association with this syndrome. It has been suggested by some investigators that the coexistence of Axenfeld-Rieger syndrome and congenital heart defects is not a chance event but it represents a distinct entity. We report a family in which four members in three generations have typical ocular features of Axenfeld-Rieger syndrome. Two of them, who are siblings, also have congenital heart defects. The congenital heart defect was bicuspid aortic valve anomaly with severe stenosis and mild regurgitation in one sibling and ostium secundum atrial septal defect in the other. To our knowledge, the combination of congenital heart defects with Axenfeld-Rieger syndrome in siblings has not been reported previously. Our observation further strengthens the notion that Axenfeld-Rieger syndrome associated with congenital heart defects is not a chance event.

Authors+Show Affiliations

Departments of Cardiology Ophthalmology, Mersin University School of Medicine, Mersin, Turkey.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20179581

Citation

Akkus, Mehmet Necdet, and Atilla Argin. "Congenital Heart Defects in Two Siblings in an Axenfeld-Rieger Syndrome Family." Clinical Dysmorphology, vol. 19, no. 2, 2010, pp. 56-61.
Akkus MN, Argin A. Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family. Clin Dysmorphol. 2010;19(2):56-61.
Akkus, M. N., & Argin, A. (2010). Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family. Clinical Dysmorphology, 19(2), 56-61. https://doi.org/10.1097/MCD.0b013e328335c1ce
Akkus MN, Argin A. Congenital Heart Defects in Two Siblings in an Axenfeld-Rieger Syndrome Family. Clin Dysmorphol. 2010;19(2):56-61. PubMed PMID: 20179581.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family. AU - Akkus,Mehmet Necdet, AU - Argin,Atilla, PY - 2010/2/25/entrez PY - 2010/2/25/pubmed PY - 2010/5/27/medline SP - 56 EP - 61 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 19 IS - 2 N2 - Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder characterized by anomalies of the anterior segment of the eye, face, teeth, and umbilicus. Many other extraocular findings, including congenital heart defects, have been reported in association with this syndrome. It has been suggested by some investigators that the coexistence of Axenfeld-Rieger syndrome and congenital heart defects is not a chance event but it represents a distinct entity. We report a family in which four members in three generations have typical ocular features of Axenfeld-Rieger syndrome. Two of them, who are siblings, also have congenital heart defects. The congenital heart defect was bicuspid aortic valve anomaly with severe stenosis and mild regurgitation in one sibling and ostium secundum atrial septal defect in the other. To our knowledge, the combination of congenital heart defects with Axenfeld-Rieger syndrome in siblings has not been reported previously. Our observation further strengthens the notion that Axenfeld-Rieger syndrome associated with congenital heart defects is not a chance event. SN - 1473-5717 UR - https://www.unboundmedicine.com/medline/citation/20179581/Congenital_heart_defects_in_two_siblings_in_an_Axenfeld_Rieger_syndrome_family_ L2 - https://doi.org/10.1097/MCD.0b013e328335c1ce DB - PRIME DP - Unbound Medicine ER -