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Two brothers with intrauterine growth retardation, short stature, distinctive face, microphthalmia, genital anomalies, and SHFM are described. Molecular analyses of <jats:italic>TP63<\/jats:italic>, <jats:italic>HOXA13<\/jats:italic>, and <jats:italic>HOXD13<\/jats:italic> genes were normal. We propose this pattern to be a newly recognized SHFM syndrome. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30696","type":"journal-article","created":{"date-parts":[[2005,4,4]],"date-time":"2005-04-04T21:17:19Z","timestamp":1112649439000},"page":"21-27","source":"Crossref","is-referenced-by-count":5,"title":["Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome"],"prefix":"10.1002","volume":"135A","author":[{"given":"Jose E.","family":"Garc\u00eda\u2010Ortiz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felipe","family":"Banda\u2010Espinoza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan C.","family":"Zenteno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luz M.","family":"Galv\u00e1n\u2010Uriarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Ruiz\u2010Flores","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Garc\u00eda\u2010Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,4,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190322"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.559"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00153.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0736-0266(03)00166-9"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10778"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.377"},{"key":"e_1_2_5_8_1","first-page":"105","article-title":"Interstitial deletion 6q16.2q22.2 in a child with ectrodactyly","volume":"39","author":"Correa\u2010Cerro L","year":"1996","journal-title":"Ann Genet"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.5.571"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.122.4.1175"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.55"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg212"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.852"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/302467"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg090"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00230215"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00369.x"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.1.72"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200210000-00001"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.14.7458"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/302070"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/338921"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009040-00007"},{"key":"e_1_2_5_24_1","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q","article-title":"A split hand\u2010split foot (SHFM3) gene is located at 10q24\u219225","volume":"62","author":"Gurrieri F","year":"1996","journal-title":"Am J Med Genet"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9036"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20103"},{"key":"e_1_2_5_28_1","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1542\/peds.79.3.410","article-title":"Growth hormone deficiency associated with the ectrodactyly\u2010ectodermal dysplasia\u2010clefting syndrome and isolated absent septum pellucidum","volume":"79","author":"Knudtzon J","year":"1987","journal-title":"Pediatrics"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1086\/377110"},{"key":"e_1_2_5_30_1","volume-title":"London Dysmorphology Database","year":"2000"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960614)63:3<472::AID-AJMG11>3.0.CO;2-J"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-179"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5261.548"},{"key":"e_1_2_5_34_1","unstructured":"Online Mendelian Inheritance in Man.2005. 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