{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T08:11:52Z","timestamp":1789978312549,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2008,10,3]],"date-time":"2008-10-03T00:00:00Z","timestamp":1222992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tetra\u2010amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra\u2010amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centromere separation was excluded. No mutation was identified upon molecular analysis of <jats:italic>WNT3<\/jats:italic>, <jats:italic>HS6ST1<\/jats:italic>, and <jats:italic>HS6ST3<\/jats:italic>. We reviewed the literature and the differential diagnosis to clarify the clinical delineation of conditions associated with tetra\u2010amelia. The present report describes the sixth family with this pattern of malformations and reinforces the evidence that the \u201ctetra\u2010amelia and lung hypo\/aplasia syndrome\u201d is a distinct autosomal recessive condition, with no identified gene thus far. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32489","type":"journal-article","created":{"date-parts":[[2008,10,4]],"date-time":"2008-10-04T02:57:15Z","timestamp":1223089035000},"page":"2799-2803","source":"Crossref","is-referenced-by-count":18,"title":["Tetra\u2010amelia and lung hypo\/aplasia syndrome: New case report and review"],"prefix":"10.1002","volume":"146A","author":[{"given":"S\u00e9rgio 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