{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:48:05Z","timestamp":1790707685411,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2021,7,8]],"date-time":"2021-07-08T00:00:00Z","timestamp":1625702400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>A terminal transverse limb defect with absence of the forearm and hand or just the hand is an uncommon limb deformity in an otherwise healthy newborn. Most of the affected infants also have tiny digit\u2010like nubbins on the stump of the affected limb, a finding that could represent an attempt at regeneration following vascular obstruction in early limb development.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>One hundred ninety\u2010four newborn infants with a limb deficiency were identified among 289,365 births in an active malformations surveillance program at Brigham and Women's Hospital in Boston, MA from 1972 to 2012. Twenty\u2010eight infants with terminal transverse limb defects were identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010four had tiny digit\u2010like nubbins (0.5\u00a0cm in length) on the stump at one of three levels: the proximal portion of the forearm, the wrist or the forefoot. The examination of the placentas of eight affected infants showed no evidence of amnion rupture. Three of these 28 infants had associate chromosome abnormalities: trisomy 21, chromosome 11q deletion and the deletion of 22q11.2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Terminal transverse limb defects reflect failure of early limb development. Awareness of this phenotype at birth, or when identified by ultrasound screening, can provide more accurate counseling than occurs with the more common misdiagnosis of \u201camniotic band syndrome.\u201d<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1931","type":"journal-article","created":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T06:31:25Z","timestamp":1625812285000},"page":"1007-1014","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Terminal transverse limb defects with \u201cnubbins\u201d"],"prefix":"10.1002","volume":"113","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0259-4848","authenticated-orcid":false,"given":"Lewis B.","family":"Holmes","sequence":"first","affiliation":[{"name":"Medical Genetics and Metabolism Unit MassGeneral Hospital for Children  Boston Massachusetts USA"},{"name":"Department of Pediatrics Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanah Z.","family":"Nasri","sequence":"additional","affiliation":[{"name":"Medical Genetics and Metabolism Unit MassGeneral Hospital for Children  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,7,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440304"},{"key":"e_1_2_10_3_1","first-page":"127","volume-title":"Congenital deformities of the upper extremities","author":"Birch\u2010Jensen A.","year":"1949"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960315)62:2<173::AID-AJMG11>3.0.CO;2-L"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00130911-199912000-00005"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055202"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.73.6.563"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460406"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-002-0112-z"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)91374-4"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.22876"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199901000-00010"},{"key":"e_1_2_10_13_1","article-title":"Evidence for a cluster of rare birth defects in the Ain department (France)","author":"Gnansia E.","journal-title":"Birth Defects Research"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33999"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80759-3"},{"key":"e_1_2_10_16_1","volume-title":"Common malformations","author":"Holmes L. 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