{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:07:16Z","timestamp":1790190436642,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2002,10,9]],"date-time":"2002-10-09T00:00:00Z","timestamp":1034121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>McKusick\u2010Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. We report such a case diagnosed just before birth with a favourable outcome. From this case we describe and discuss all the prenatal sonographic signs which are not always present. On the genetic side, the gene has recently been localized together with the mutation responsible for MKKS. The phenotypic relationship between MKKS which has a good prognosis and Bardet\u2010Biedl syndrome (BBS) with a worse prognosis requires great caution before diagnosing MKKS and a long follow\u2010up is necessary to recognize obesity, growth retardation and pigmentary retinitis. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.448","type":"journal-article","created":{"date-parts":[[2002,11,8]],"date-time":"2002-11-08T15:25:37Z","timestamp":1036769137000},"page":"1048-1050","source":"Crossref","is-referenced-by-count":17,"title":["McKusik\u2010Kaufman syndrome: prenatal diagnosis, genetics and follow up"],"prefix":"10.1002","volume":"22","author":[{"given":"Pascal","family":"Gaucherand","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Vavasseur\u2010Monot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Ollagnon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Boisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Marc","family":"Labaune","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Basset","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Yared","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,10,9]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1133","article-title":"Further delineation of the McKusick\u2010Kaufman hydrometrocolpos\u2010polydactyly syndrome","volume":"141","author":"Chitayat D","year":"1987","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_3_1","first-page":"599","article-title":"Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet\u2010Biedl and McKusick\u2010Kaufman syndromes","volume":"36","author":"David A","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250202"},{"key":"e_1_2_1_5_1","first-page":"65","volume-title":"Pathologie des membres. 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