Literature DB >> 3976722

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies.

S Goldstein, Q H Qazi, J Fitzgerald, J Goldstein, A P Friedman, P Sawyer.   

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.

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Year:  1985        PMID: 3976722     DOI: 10.1002/ajmg.1320200212

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  Hereditary lymphedema and distichiasis.

Authors:  T Kolin; K J Johns; W B Wadlington; M G Butler; M A Sunalp; K W Wright
Journal:  Arch Ophthalmol       Date:  1991-07

Review 2.  Post-thrombotic syndrome in children: a systematic review of frequency of occurrence, validity of outcome measures, and prognostic factors.

Authors:  Neil A Goldenberg; Marco P Donadini; Susan R Kahn; Mark Crowther; Gili Kenet; Ulrike Nowak-Göttl; Marilyn J Manco-Johnson
Journal:  Haematologica       Date:  2010-06-30       Impact factor: 9.941

3.  Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.

Authors:  J Fang; S L Dagenais; R P Erickson; M F Arlt; M W Glynn; J L Gorski; L H Seaver; T W Glover
Journal:  Am J Hum Genet       Date:  2000-11-08       Impact factor: 11.025

4.  Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

Authors:  G Brice; S Mansour; R Bell; J R O Collin; A H Child; A F Brady; M Sarfarazi; K G Burnand; S Jeffery; P Mortimer; V A Murday
Journal:  J Med Genet       Date:  2002-07       Impact factor: 6.318

  4 in total

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