{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T12:48:29Z","timestamp":1782391709572,"version":"3.54.5"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4279,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe 3 unrelated newborn males with a previously unreported constellation of conenital anomalies. All 3 died neonatally of hepatic failure. Clinically, they presented with a pattern of malformations characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, and postaxial polydactyly. All 3 cases had male extenal genitalia with cryptorchidism, and 2 of them, a small penis. Necropsies showed similar internal anomalies, consisting m\u00fcllerian duct remnants, lymphangiectasis, and renal anomalies. The karyotypes were normal (46, XY) in skin fibroblasts (Case 1) and in peripheral blood lymphocytes (Case 3).<\/jats:p><jats:p>Although this pattern of congenital anomalies must be differentiated from several other lethal syndromes, to our knowledge, no similar cases have been described previously.<\/jats:p><jats:p>Cause of this syndrome is unknown. Because Case 2 had a previous brother with similar anomalies, we suspect that this new entity probably is an autosomal recessive or X\u2010linked trait. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470413","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:34:21Z","timestamp":1118507661000},"page":"494-503","source":"Crossref","is-referenced-by-count":22,"title":["Persistence of m\u00fcllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies"],"prefix":"10.1002","volume":"47","author":[{"given":"Miguel","family":"Urioste","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 I.","family":"Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 M.","family":"Barcia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mart\u00edn","family":"Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Escrib\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Pardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Camino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00edA Luis\u00e1 Mart\u00ednez\u2010","family":"Fr\u00edas","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":"10.1002\/ajmg.1320210313"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.1.9"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190223"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260112"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.4.291"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5856.771"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80013-8"},{"key":"e_1_2_1_9_1","first-page":"1172","volume-title":"Birth Defects Encyclopedia","author":"Buyse ML","year":"1990"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260110"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.1.64"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400223"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(70)91441-8"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.141.1.6270728"},{"key":"e_1_2_1_15_1","first-page":"54","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260111"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170410"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340429"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00583.x"},{"key":"e_1_2_1_20_1","first-page":"367","volume-title":"Clinical Pediatric Endocrinology","author":"Kaplan S","year":"1990"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140304"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03000.x"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.2.88"},{"issue":"4","key":"e_1_2_1_24_1","first-page":"174","article-title":"I\u2010cell disease","author":"Leroy JG","year":"1969","journal-title":"BD:OAS"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410420"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210312"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330208"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.1988.tb01945.x"},{"key":"e_1_2_1_29_1","first-page":"245","volume-title":"Testicular and Epididymal Pathology","author":"Nistal M","year":"1984"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240115"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260113"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430303"},{"key":"e_1_2_1_33_1","first-page":"23","article-title":"Syndrome identification case report 118. 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