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PMID: 3976722 Published · ppublish English Case Reports Journal Article

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies.

American journal of medical genetics ·Vol. 20 ·No. 2 ·1985-02-00 ·Pages 283-94

Goldstein S, Qazi QH, Fitzgerald J, Goldstein J, Friedman AP, Sawyer P

Abstract

We report on a previously apparently unreported syndrome of distichiasis with congenital heart defects and with mixed peripheral vascular anomalies in a mother and her four children. The mother had a ventricular septal defect; both daughters had surgery for patent ductus arteriosus. Sinus bradycardia alone (elder son), with stress induced asystole (younger son), and with wandering atrial pacemaker (both daughters) are documented electrocardiographically. Three of the five have edema, two have visible varicosities, three have symptoms consistent with chronic venous disease of the legs, and the older daughter has complaints consistent with arterial disease in the legs. Doppler flow studies demonstrated post-phlebitic syndrome in all but the younger daughter, and vasospastic disease in the mother, older daughter, and second son.

MeSH Terms
Adolescent Adult Arrhythmias, Cardiac/genetics Ductus Arteriosus, Patent/genetics Edema/genetics Electrocardiography Eyelashes/abnormalities Female Genes, Dominant Heart Defects, Congenital/genetics Heart Septal Defects, Ventricular/genetics Humans Male Middle Aged Pedigree Syndrome Varicose Veins/genetics Vascular Diseases/genetics Venous Insufficiency/genetics
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Goldstein S
Qazi Q H
Fitzgerald J
Goldstein J
Friedman A P
Sawyer P
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
1985-02-00
Pages
283-94
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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