Jump to content

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies

From Wikipedia, the free encyclopedia
Distichiasis, congenital heart defects and mixed vascular anomalies
SpecialtyMedical genetics
SymptomsEyelash, congenital heart defects and various vascular abnormalities
Usual onsetNeonatal
DurationLifelong
CausesGenetic mutation
Preventionnone
PrognosisMedium
Frequencyvery rare, only 5 cases have been described in medical literature
Deaths-

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies is a very rare genetic disorder which is characterized by distichiasis, congenital heart defects, and various peripheral vascular abnormalities. Only 5 cases have been described in medical literature.[1]

Etimology

[edit]

This disorder was first described in 1985, when Goldstein et al. described 5 patients; a mother and her 4 children, with a combination of distichiasis, congenital heart defects, and vascular abnormalities. The mother, who was 52 years old, had a ventricular septal defect, two of her daughters had patent ductus arteriosus, her oldest son had bradycardia of the sinus, and her youngest son had stress-induced asystole. Other findings found in some of her children were edema (3/5), chronic venous disease (3/5), varicose veins (2/5), and arterial leg disease (1/5).[2][3]

References

[edit]
  1. ^ "OMIM Entry - 126320 - DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE". omim.org. Retrieved 2022-06-04.
  2. ^ Goldstein, Stanley; Qazi, Qutub H.; Fitzgerald, Joseph; Goldstein, Joseph; Friedman, Anita P.; Sawyer, Philip; Opitz, John M.; Reynolds, James F. (February 1985). "Distichiasis, congenital heart defects and mixed peripheral vascular anomalies". American Journal of Medical Genetics. 20 (2): 283–294. doi:10.1002/ajmg.1320200212. ISSN 0148-7299. PMID 3976722.
  3. ^ Goldstein, S.; Qazi, Q. H.; Fitzgerald, J.; Goldstein, J.; Friedman, A. P.; Sawyer, P. (February 1985). "Distichiasis, congenital heart defects and mixed peripheral vascular anomalies". American Journal of Medical Genetics. 20 (2): 283–294. doi:10.1002/ajmg.1320200212. ISSN 0148-7299. PMID 3976722.