{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:30Z","timestamp":1761717930198},"reference-count":50,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,7,8]],"date-time":"2004-07-08T00:00:00Z","timestamp":1089244800000},"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":[[2004,8,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dieker and Opitz in 1969 described the simultaneous occurrence of limb deficiencies (LDs) and renal anomalies (RAs) in three patients. Curran and Curran introduced in 1972 the term \u201cacrorenal syndrome.\u201d Since then, the term \u201cacrorenal syndrome\u201d is used occasionally, but a well\u2010circumscribed definition has never been established. On the other hand, the concept of an acrorenal polytopic developmental field defect was postulated by Opitz and others to explain the association between RAs and LDs. We undertook this study to investigate whether this acrorenal \u201csyndrome\u201d could be identified in a large group of cases with congenital RAs and a limb deficiency. Eleven birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring (i.e., registries of ICBDMS in Finland, France [Paris and Strasbourg], Israel, Italy [IPIMC and Emilia Romagna], Mexico, Northern Netherlands, South America, Spain, and the United States [Atlanta]) provided data on 815 infants who had a LD and at least one other major congenital anomaly. These 815 cases were ascertained among 5,163,958 births. We selected the 197 cases who had both a limb deficiency and a renal or urinary tract anomaly. In about 50% of these cases a diagnosis or a recognized phenotype was reported, with chromosomal aberrations and VACTERL being most frequent. In the group with no diagnosis or recognized phenotype (95 cases), we looked for (a) clustering of specific types of LDs and RAs, and (b) for clustering of associated anomalies, in order to find evidence for and be able to define better the term \u201cacrorenal syndrome.\u201d Our data suggest that an association exists between LDs and RAs, possibly explained by the concept of the acrorenal polytopic developmental field defect. However, our dataset does not yield evidence for the existence of one distinct \u201csyndrome,\u201d defined as a pattern of causally related multiple anomalies. Therefore, use of the term \u201cacrorenal syndrome\u201d should be avoided. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30176","type":"journal-article","created":{"date-parts":[[2004,7,8]],"date-time":"2004-07-08T22:03:38Z","timestamp":1089324218000},"page":"149-155","source":"Crossref","is-referenced-by-count":7,"title":["Renal defects and limb deficiencies in 197 infants: Is it possible to define the \u201cacrorenal syndrome\u201d?"],"prefix":"10.1002","volume":"129A","author":[{"given":"Hester Y.","family":"Kroes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard S.","family":"Olney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aldo","family":"Rosano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yecai","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo E.","family":"Castilla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Cocchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"De Vigan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda L.","family":"Mart\u00ednez\u2010Fr\u00edas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierpaolo","family":"Mastroiacovo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Merlob","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osvaldo","family":"Mutchinick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annukka","family":"Ritvanen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"Stoll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthonie J.","family":"van Essen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan Maarten","family":"Cobben","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina C.","family":"Cornel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,7,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<276::AID-AJMG14>3.0.CO;2-H"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490419"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670050211"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270319"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80999-X"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1542\/peds.49.5.716","article-title":"Associated acral and renal malformations: A new syndrome?","volume":"49","author":"Curran AS","year":"1972","journal-title":"Pediatrics"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.9.4082"},{"key":"e_1_2_5_9_1","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1242\/dev.112.3.669","article-title":"Gradient fields and homeobox genes","volume":"112","author":"De Robertis EA","year":"1991","journal-title":"Development"},{"issue":"3","key":"e_1_2_5_10_1","first-page":"68","article-title":"Associated acral and renal malformations","author":"Dieker H","year":"1969","journal-title":"Birth Defects;"},{"key":"e_1_2_5_11_1","unstructured":"EUROCAT European Registration of Congenital Anomalies.1997.15 years of surveillance of congenital anomalies in Europe EUROCAT report 7 Addendum Table A23. 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