{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:26:57Z","timestamp":1790742417642,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,30]],"date-time":"2016-03-30T00:00:00Z","timestamp":1459296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Intramural Research Program"},{"name":"Westat","award":["HHSN261201100018C"],"award-info":[{"award-number":["HHSN261201100018C"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>VACTERL\u2010H association includes three of eight features: vertebral anomalies, anal atresia, congenital heart disease, tracheo\u2010esophageal fistula, esophageal atresia, renal, limb anomalies, and hydrocephalus. The VACTERL\u2010H phenotype among cases with FA is considered to be about 5%; the frequency of FA among patients with VACTERL\u2010H is unknown. We examined 54 patients with FA in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort for features of VACTERL\u2010H, including imaging studies (radiology and ultrasound). Eighteen of the fifty\u2010four patients had three or more VACTERL\u2010H features. The presence of VACTERL\u2010H association in 33% of those with FA is much higher than the previous estimate of 5% (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.0001). We created the acronym PHENOS (Pigmentation, small Head, small Eyes, central Nervous system (not hydrocephalus), Otology, and Short stature) which includes all major phenotypic features of FA that are not in VACTERL\u2010H; these findings were more frequent in the patients with FA who had VACTERL\u2010H. Identification of any components of the VACTERL\u2010H association should lead to imaging studies, and to consideration of the diagnosis of FA, particularly if the patient has radial ray and renal anomalies, as well as many features of PHENOS. There was no association of the presence or absence of VACTERL\u2010H with development of cancer, stem cell transplant, or survival. Early diagnosis will lead to genetic counseling and early surveillance and management of complications of FA. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37637","type":"journal-article","created":{"date-parts":[[2016,3,30]],"date-time":"2016-03-30T20:26:16Z","timestamp":1459369576000},"page":"1520-1524","source":"Crossref","is-referenced-by-count":58,"title":["Thinking of VACTERL\u2010H? Rule out Fanconi Anemia according to PHENOS"],"prefix":"10.1002","volume":"170","author":[{"given":"Blanche P.","family":"Alter","sequence":"first","affiliation":[{"name":"Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neelam","family":"Giri","sequence":"additional","affiliation":[{"name":"Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute Rockville Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,3,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2010.08212.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1159\/000346035","article-title":"VACTERL\u2010H association and fanconi anemia","volume":"4","author":"Alter BP","year":"2013","journal-title":"Mol Syndromol"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<8::AID-AJMG2>3.0.CO;2-V"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340209"},{"key":"e_1_2_6_6_1","first-page":"4064","article-title":"Association of complementation group and mutation type with clinical outcome in fanconi anemia. 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