{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:57:52Z","timestamp":1790891872627,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":8189,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1983,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe two unrelated malformed infants who died shortly after birth and who had multiple congenital anomalies including hydrops and ascites, facial abnormalities (with median cleft of the upper lip), narrow thorax, protuberant abdomen, and short, bowed limbs.<\/jats:p><jats:p>Postmortem radiographs showed very short ribs and disproportionately short long tubular bones; no metaphyseal abnormalities were present.<\/jats:p><jats:p>Comparison with earlier described short\u2010rib\/short\u2010rib\u2010polydactyly syndromes suggest that the disorder present in our two cases is a new type of short\u2010rib syndrome. One of our patients was born to a consanguineous couple; in a subsequent pregnancy, real\u2010time ultrasonography in the second trimester showed that the female fetus had the same abnormalities as its sib. Diagnosis was confirmed after elective abortion. This suggests that this short\u2010rib syndrome may be an autosomal recessive disorder.<\/jats:p>","DOI":"10.1002\/ajmg.1320140116","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:34:20Z","timestamp":1118504060000},"page":"115-123","source":"Crossref","is-referenced-by-count":75,"title":["A new short rib syndrome: Report of two cases"],"prefix":"10.1002","volume":"14","author":[{"given":"Frits A.","family":"Beemer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Leonard O.","family":"Langer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna M.","family":"Klep\u2010De Pater","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne M.","family":"Hemmes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan B.","family":"Bylsma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard M.","family":"Pauli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry L.","family":"Myers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"III","given":"Claude C.","family":"Haws","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00364092"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.61.3.427"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070214"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00444756"},{"key":"e_1_2_1_6_1","first-page":"161","article-title":"The syndrome of micromelic dwarfism and multiple anomalies","volume":"19","author":"Gordon IRS","year":"1976","journal-title":"Ann Radiol (Paris)"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1977.tb03189.x"},{"key":"e_1_2_1_8_1","first-page":"127","article-title":"Saldino\u2010Noonan short rib\u2010polydactyly dwarfism syndrome","volume":"13","author":"Leroy J","year":"1978","journal-title":"Clin Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00446428"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569346"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1148\/122.2.443"},{"key":"e_1_2_1_12_1","unstructured":"RimoinD(1981):Short rib polydactyly syndromes. 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