{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T14:51:21Z","timestamp":1761058281429},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,5,10]],"date-time":"2005-05-10T00:00:00Z","timestamp":1115683200000},"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":[[2005,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 1988 Pfeiffer and Kapferer reported on a patient with sensorineural deafness, psychomotor delay, hypospadias, cerebral manifestations, and bilateral synostosis of the 4th and 5th metacarpals and metatarsals. Synostosis of the 4th and 5th metacarpals and metatarsals is a very rare defect that has been described as an isolated Mendelian defect, as part of multiple congenital anomaly (MCA) patterns, and in different syndromes. Among a total of 2,023,155 liveborn infants in the Spanish Collaborative Study of Congenital Malformations (ECEMC), we observed only two cases with this type of metacarpal fusion, for a frequency of 1\/1,011,577. One had the isolated defect, and the other one that we are describing here, had an MCA pattern similar to that described by Pfeiffer and Kapferer [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib8\">1988<\/jats:ext-link>]. We tested <jats:italic>HOXD13<\/jats:italic> but did not find any mutations in exons and intron\u2013exon boundaries. To our knowledge this case is the second one reported with this syndrome. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30728","type":"journal-article","created":{"date-parts":[[2005,5,10]],"date-time":"2005-05-10T18:18:55Z","timestamp":1115749135000},"page":"211-213","source":"Crossref","is-referenced-by-count":2,"title":["Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: Description of a second patient and exclusion of <i>HOXD13<\/i>"],"prefix":"10.1002","volume":"135A","author":[{"given":"Jacobo","family":"Mendioroz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joaqu\u00edn","family":"Fern\u00e1ndez\u2010Toral","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etelvina","family":"Su\u00e1rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fermina","family":"L\u00f3pez\u2010Grondona","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus W.","family":"Kjaer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Bermejo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Luisa","family":"Mart\u00ednez\u2010Fr\u00edas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520230"},{"key":"e_1_2_8_3_1","first-page":"369","article-title":"Unilateral longitudinal radial ray deficiency of the hand and metacarpal 4\u20105 synostosis","volume":"10","author":"De Smet L","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20379"},{"key":"e_1_2_8_5_1","first-page":"562","article-title":"Metacarpal 4\u20105 fusion with X\u2010linked recessive inheritance","volume":"24","author":"Holmes LB","year":"1972","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/377110"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20382"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490109"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310103"},{"issue":"1","key":"e_1_2_8_10_1","first-page":"319","article-title":"Limb anomalies in chromosomal aberrations","volume":"13","author":"Pfeiffer RA","year":"1977","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110414"},{"issue":"3","key":"e_1_2_8_12_1","first-page":"243","article-title":"A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation","volume":"35","author":"Schinzel A","year":"1980","journal-title":"Helv Paediatr Acta. 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