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The malformations of 247 hemifacial microsomia (HFM) patients with one or more anomalies in other body regions were analyzed and compared with those of 255 VATER and 101 sirenomelia patients studied in the same fashion. The HFM patients were analyzed in four subgroups delineated by the number of their concomitant VATER ascertainment abnormalities (VAA). Three or more VAA occurred in 33 HFM patients who were designated to have the HFM\u2010VATER phenotype and while no significant alteration of the HFM phenotype was found, there were notable differences in the analyses of the 20 malformation categories studied.<\/jats:p><jats:p>Analyzed in separate heart and blood vessel (BV) categories, occurrences of BV defects in HFM patients with 0\u20131 VAA were low (4\u20136%) and due to anomalies other than sigle umbilical arteries (SUA). The BV abnormalities increased to 20% in the HFM with two VAA, HFM\u2010VATER, and VATER phenotypes with equal occurrence of SUA and other BV anomalies. The incidence of SUA was markedly increased (64%) in the sirenomelia. Heart defects rose from 22% to 40% with the increasing VAA in individual HFM patients but were less in VATER (29%) and sirenomelia (21%) patients and were attributed to complex conotruncal, and other early embryonic anomalies. Unilateral agenesis of paired organs systems occurred frequently and, possibly, can be attributed to an absent blood supply.<\/jats:p><jats:p>Each phenotype of the sequence also had increased VAA, rib\/vertebrae hypersegmentation, and monozygotic twinning. The variation in the incidences of malformations in the three phenotypes can be attributed to their relative location in the craniocranial organogenesis sequence of normal human embryologic development. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470116","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:05:55Z","timestamp":1118509555000},"page":"75-84","source":"Crossref","is-referenced-by-count":39,"title":["Interrelationships of the hemifacial microsomia\u2010VATER, VATER, and sirenomelia phenotypes"],"prefix":"10.1002","volume":"47","author":[{"given":"Peter A.","family":"Duncan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence R.","family":"Shapiro","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","first-page":"82","article-title":"Cardiovascular anomalies in craniofacial disorders: Pathogenetic and epidemiologic implications","volume":"4","author":"Ardinger HH","year":"1985","journal-title":"Proc Greenwood Genet Cent"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(82)80004-3"},{"key":"e_1_2_1_4_1","first-page":"54","article-title":"Occurrence of a non\u2010allantoic or vitelline placenta in the human subject","volume":"23","author":"Ballantyne JW","year":"1897","journal-title":"Trans Edinburgh Obstet Soc"},{"key":"e_1_2_1_5_1","first-page":"182","article-title":"Hindgut\u2010cloacal atresias as a spectrum of caudal field defects in the human fetus","volume":"7","author":"Barr M","year":"1988","journal-title":"Proc Greenwood Genet Cent"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"948","DOI":"10.2106\/00004623-198971060-00025","article-title":"VATER association: A unifying concept of multiple anomalies","volume":"71","author":"Beals RK","year":"1989","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_7_1","first-page":"565","volume-title":"Maternal\u2010Fetal Medicine: Principles and Practice","author":"Benirschke K","year":"1989"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420380308"},{"key":"e_1_2_1_9_1","first-page":"258","article-title":"Skeletal anomalies in oesophageal atresia","volume":"26","author":"Brereton RJ","year":"1979","journal-title":"Z Kinderchir"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1986.02140150043030"},{"key":"e_1_2_1_11_1","first-page":"276","article-title":"Oculoauriculovertebral spectrum: an updated critique","volume":"26","author":"Cohen MM","year":"1989","journal-title":"Cleft Palate J"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(55)90001-6"},{"key":"e_1_2_1_13_1","unstructured":"DuncanPA ShapiroLR(1980):Hypothesis for a common embryologic pathogenesis of sirenomelia and VATER association using and alternate method for ascertainment of the VATER association and complete reporting of malformations. 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