{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T07:27:39Z","timestamp":1791962859023,"version":"4.3.4"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":7431,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2010phlebitic syndrome in all but the younger daughter, and vasospastic disease in the mother, older daughter, and second son.<\/jats:p>","DOI":"10.1002\/ajmg.1320200212","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:55:06Z","timestamp":1118519706000},"page":"283-294","source":"Crossref","is-referenced-by-count":22,"title":["Distichiasis, congenital heart defects and mixed peripheral vascular anomalies"],"prefix":"10.1002","volume":"20","author":[{"given":"Stanley","family":"Goldstein","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qutub H.","family":"Qazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Fitzgerald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Goldstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita P.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Sawyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.50.6.1097"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1955.00930010121016"},{"key":"e_1_2_1_4_1","first-page":"69","article-title":"Milroy's disease. Chronic hereditary edema","volume":"2","author":"Campbell KN","year":"1945","journal-title":"Univ Hosp Bull Ann Arbor"},{"key":"e_1_2_1_5_1","first-page":"251","volume-title":"On Medicine","author":"Celsus AC","year":"1831"},{"key":"e_1_2_1_6_1","first-page":"85","article-title":"Materiaux pour servir \u00e0 I'histoire des abnormit\u00e9s cong\u00e9nitales des yeux et des leurs annexes","volume":"27","author":"Cornaz E","year":"1852","journal-title":"Ann d'Ocul"},{"key":"e_1_2_1_7_1","first-page":"368","article-title":"Distichasi ed entropian congeniti","volume":"34","author":"DeRosa G","year":"1927","journal-title":"Arch di Ottalmol"},{"key":"e_1_2_1_8_1","first-page":"1023","article-title":"Distichiasis and epicanthus: A study of one family","volume":"62","author":"Deutsch AR","year":"1969","journal-title":"J Tenn Med Assoc"},{"key":"e_1_2_1_9_1","first-page":"9","article-title":"Le distichiasis cong\u00e9nital vrai. Th\u00e8se pr\u00e9sent\u00e9e \u00e0 la Facult\u00e9e de M\u00e9dicine et de Pharmacie de Lyon","volume":"172","author":"Drouin M","year":"1939","journal-title":"Ann\u00e9e Scolaire"},{"key":"e_1_2_1_10_1","first-page":"427","article-title":"Ein Beitrag zur Kenntnis der distichiasis congenita (hereditaria)","volume":"11","author":"Erdmann P","year":"1904","journal-title":"Z Augenh"},{"key":"e_1_2_1_11_1","first-page":"248","article-title":"A new syndrome combining pterygium colli with developmental anomalies of the eyelids and lymphatics of the lower extremities","volume":"62","author":"Falls HF","year":"1964","journal-title":"Trans Am Ophthalmol Soc"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(62)90387-2"},{"key":"e_1_2_1_13_1","first-page":"491","article-title":"Distichiasis complicating allergic rhinoconjunctivitis","volume":"132","author":"Friday GA","year":"1978","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_14_1","first-page":"524","volume-title":"Lehrbuch f\u00fcr Augenheilkunde","author":"Fuchs E","year":"1889"},{"key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1542\/peds.61.4.575","article-title":"Hereditary late\u2010onset lymphedema","volume":"61","author":"Holmes LB","year":"1978","journal-title":"Pediatrics"},{"key":"e_1_2_1_16_1","first-page":"292","article-title":"Distichiasis and lymphedema. A hereditary syndrome with possible multiple defects. A report of a family","volume":"69","author":"Hoover RE","year":"1971","journal-title":"Trans Am Ophthalmol Soc"},{"key":"e_1_2_1_17_1","first-page":"371","article-title":"Ein muthmaasslicher Fall von angeborener Trichiasis","volume":"22","author":"Ischreyt G","year":"1898","journal-title":"Centrbl prakt Augenh"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273160"},{"key":"e_1_2_1_19_1","first-page":"127","article-title":"Letter to the editor","volume":"23","author":"Koller C","year":"1899","journal-title":"Centrbl prakt Augenh"},{"key":"e_1_2_1_20_1","first-page":"46","article-title":"Uber Distichiasis (congenita) vera","volume":"2","author":"Kuhnt H","year":"1899","journal-title":"Z Aughen"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(75)90479-8"},{"key":"e_1_2_1_22_1","first-page":"1053","article-title":"Un sindrome peculiar de anomalias cong\u00e9nitas","volume":"35","author":"Mendoza HR","year":"1978","journal-title":"Bol Med Hosp Infant Mex"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.40.9.951"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1972.tb05990.x"},{"key":"e_1_2_1_25_1","first-page":"41","volume-title":"Trait\u00e9 \u00e9l\u00e9mentaire d' ophtalmologie.","author":"Nimier H","year":"1894"},{"key":"e_1_2_1_26_1","first-page":"5","volume-title":"The pathology of the eye.","author":"Parsons JH","year":"1904"},{"key":"e_1_2_1_27_1","first-page":"871","article-title":"Distichiasis congenita vera","volume":"31","author":"Pokrovski AL","year":"1914","journal-title":"Vestnik oftalmol"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.40.12.1402"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(70)90761-7"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1970.02100050345013"},{"key":"e_1_2_1_31_1","first-page":"205","volume-title":"Non\u2010invasive Cardiovascular Diagnosis, Current Concepts.","author":"Sawyer PN","year":"1978"},{"key":"e_1_2_1_32_1","first-page":"244","volume-title":"Handbook Of Opthalmology.","author":"Schweigger C","year":"1878"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.6.514"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(67)90437-7"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320200212","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320200212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T14:04:20Z","timestamp":1695823460000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320200212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,2]]},"references-count":33,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1985,2]]}},"alternative-id":["10.1002\/ajmg.1320200212"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320200212","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,2]]}}}