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Patella development involves different molecular and cellular mechanisms regulating dorso\u2010ventral patterning, cartilage and bone formation along endochondral ossification pathways, and growth. Several human genes that are important for patella development have been uncovered by the study of human limb malformation syndromes, yet causative genes for many more such disorders await to be identified and their complex interactions in the developmental pathways deciphered. Mutant animal models of congenital patellar aplasia or hypoplasia are certainly instrumental to create more insight into this aspect of limb development. Moreover, investigation of the complete phenotype of human syndromes and animal models may reveal novel insights into the pleiotropic roles of the responsible genes in the normal developmental of other organ systems. In this review, the phenotype and gene defects of syndromes with congenital patellar aplasia or hypoplasia will be discussed, including the nail patella syndrome, small patella syndrome, isolated patella aplasia hypoplasia, Meier\u2013Gorlin syndrome, RAPADILINO syndrome, and genitopatellar syndrome.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2005.00508.x","type":"journal-article","created":{"date-parts":[[2005,9,2]],"date-time":"2005-09-02T13:12:22Z","timestamp":1125666742000},"page":"302-319","source":"Crossref","is-referenced-by-count":63,"title":["Human syndromes with congenital patellar anomalies and the underlying gene defects"],"prefix":"10.1111","volume":"68","author":[{"given":"EMHF","family":"Bongers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Van Kampen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Van Bokhoven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"NVAM","family":"Knoers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,9,2]]},"reference":[{"key":"e_1_2_16_2_2","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-198769070-00004"},{"key":"e_1_2_16_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80261-8"},{"key":"e_1_2_16_4_2","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1097\/01241398-199801000-00022","article-title":"Double\u2010layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis","volume":"18","author":"Sheffield EG","year":"1998","journal-title":"J Pediatr Orthop"},{"key":"e_1_2_16_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450116"},{"key":"e_1_2_16_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80364-5"},{"key":"e_1_2_16_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1001"},{"key":"e_1_2_16_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(02)00291-5"},{"key":"e_1_2_16_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201332"},{"key":"e_1_2_16_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201446"},{"key":"e_1_2_16_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1971.tb00278.x"},{"key":"e_1_2_16_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/01241398-199111000-00007"},{"key":"e_1_2_16_13_2","first-page":"478","article-title":"Iliac horns: a pathognomonic roentgen sign of familial onycho\u2010ostodysplasia","volume":"86","author":"Zimmerman C","year":"1961","journal-title":"Am J Roentgenol Radium Ther Nucl Med"},{"key":"e_1_2_16_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)70866-9"},{"key":"e_1_2_16_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.153"},{"key":"e_1_2_16_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(50)90636-2"},{"key":"e_1_2_16_17_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-196408000-00002"},{"key":"e_1_2_16_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1972.99"},{"key":"e_1_2_16_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(73)90025-9"},{"key":"e_1_2_16_20_2","first-page":"133","article-title":"The nail\u2010patella syndrome. 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