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The types and numbers of morphologic variations present in both the full and mosaic trisomy 18 bodies were similar to the types and numbers of variations seen in all other cases of full trisomy 18 that have been sudied by gross dissection. Apart from an atrial septal defect, the body of the infant with the 18p\u2013 imbalance showed only 2 striking defects: (1) deficiencies of the levator palpebrae superioris muscle of the upper eyelid, and (2) absence of the ligament of the head of the femur. The first variation provedes a morphologic basis to explain the ptosis which is observed frequently in effected individual. Absence of the ligament of the head of the femur may be a factor contributing to congenital dislocation of the hip, which is reported occasionally in affecte individual. In addition to providing more detailed information about the phenotype of individual aneuploidy syndromes, studies of cases of single autosomes may provide additional insights about the genotype\/phenotype relationships of specific chromosome segmeents.<\/jats:p>","DOI":"10.1002\/ajmg.1320270221","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:52:19Z","timestamp":1118544739000},"page":"425-434","source":"Crossref","is-referenced-by-count":4,"title":["Chromosome 18 aneuploidy: Anatomical variations observed in cases of full and mosaic trisomy 18 and a case of deletion of the short arm of chromosome 18"],"prefix":"10.1002","volume":"27","author":[{"given":"Bruce","family":"Urban","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward T.","family":"Bersu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","volume-title":"Morris1 Human Anatomy","author":"Anson BJ","year":"1966"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.1330540308"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420200214"},{"key":"e_1_2_1_5_1","series-title":"BD:OAS","first-page":"3","volume-title":"Anatomic studies in the 18\u2010trisomy syndrome","author":"Barash BA","year":"1970"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050411"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010204"},{"key":"e_1_2_1_8_1","first-page":"834","article-title":"A study of the blood supply of the ligamentum teres and its rclation lo the circulation of the head of the femur","volume":"14","author":"Chandler SB","year":"1932","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00848416"},{"key":"e_1_2_1_10_1","volume-title":"Anatomy of the Newborn. 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