{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:48:33Z","timestamp":1790833713410,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4267,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a \u201cnew\u201d mild malformation of the phalanx, which we call the \u201cangel\u2010shaped phalanx\u201d (ASP) because of its resemblance to the little angels used for the decoration of Christmas trees. A particular middle phalangeal type of ASPs is found in a distinct variety of multiple epiphyseal dysplasia with marked retardation of bone age and severe coxarthrosis in adult life, previously reported as \u201chereditary peripheral dysostosis\u201d [Bach\u2010man, 1967: Proc R Soc Med 60:21\u201322; Giedion, 1969: Fortschr Rontgenstr 110:507\u2013524]. However, these authors overlooked the unique configuration of the middle phalanges. We renamed the condition \u201cangel\u2010shaped phalango\u2010epiphyseal dysplasia (ASPED)\u201d, which may be transmitted in an autosomal\u2010dominant manner.<\/jats:p><jats:p>Six new patients are added, bringing the total to nine patients (two families and two isolated patients). ASPs were seen in five of six children. The ASPs grew into inconspicuous brachydactyly after physeal closure (3\/3). The most important additional radiological finding is late and dysplastic development of both femoral heads (5\/5), leading to Pertheslike and osteoarthritic changes and severe hip pain in the early thirties (2\/2 adults, having reached this age). The marked retardation of carpal bone age may lead to unnecessary clinical evaluation for endocrine disorders. Less frequent clinical manifestations of ASPED are hyperextensibility of the interphalangeal joints (7\/9) and hypodontia (4\/7).<\/jats:p><jats:p>Other types of ASPs are observed in brachyphalangy type C, spondylo\u2010megepiphyseal\u2010metaphyseal dysplasia, and other conditions.<\/jats:p><jats:p>The concept of mild bone abnormalities as specific markers for genetic disease, as with cone\u2010shaped epiphyses and now evident in ASPED, may also be useful for ASPs in general. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470534","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:06:35Z","timestamp":1118509595000},"page":"765-771","source":"Crossref","is-referenced-by-count":18,"title":["Angel\u2010shaped phalango\u2010epiphyseal dysplasia (ASPED): Identification of a new genetic bone marker"],"prefix":"10.1002","volume":"47","author":[{"given":"A.","family":"Giedion","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Prader","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Fliegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Krasikov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Langer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Poznanski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"21","article-title":"Hereditary peripheral dysostosis (three cases)","volume":"60","author":"Bachman RK","year":"1967","journal-title":"Proc R Soc Med"},{"key":"e_1_2_1_3_1","first-page":"460","article-title":"Ein neuer Typ einer letalen, mikromelen Knochendysplasie mit kurzen Rippen, defekter Ossifikation und ungew\u00f6hnlicher Brachyphalangie","volume":"76","author":"Caduff R","year":"1992","journal-title":"Verh Dtsch Ges Path"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02387953"},{"key":"e_1_2_1_5_1","first-page":"663","article-title":"Zahn\u2010Unterzahl. (Diagnostik, Statistik, Artikulation)","volume":"45","author":"Dolder E","year":"1936","journal-title":"Schweiz Mschr Zahnheilk"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1148\/105.2.375"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1228596"},{"key":"e_1_2_1_8_1","first-page":"104","article-title":"Acrodysplasias, peripheral dysostosis, acrodysotosis and Thiemann's disease","volume":"114","author":"Giedion A","year":"1973","journal-title":"Clin Orthop"},{"key":"e_1_2_1_9_1","first-page":"651","article-title":"Genetic bone disease: Radiologic sight and insight","volume":"151","author":"Giedion A","year":"1988","journal-title":"Am J Radiol"},{"key":"e_1_2_1_10_1","first-page":"695","volume-title":"Schinz. Radiologische Diagnostik in Klinik und Praxis","author":"Giedion A","year":"1991"},{"key":"e_1_2_1_11_1","first-page":"390","volume-title":"Human Embryology","author":"Hamilton WJ","year":"1962"},{"key":"e_1_2_1_12_1","first-page":"357","article-title":"Ost\u00e9ochondrite de hanche et Syndrome Tricho\u2010Rhino\u2010Phalangien","volume":"38","author":"Le Saout J","year":"1984","journal-title":"Ann Chir"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1148\/104.1.1"},{"key":"e_1_2_1_14_1","first-page":"240","volume-title":"The Hand in Radiologic Diagnosis","author":"Poznanski A","year":"1984"},{"key":"e_1_2_1_15_1","article-title":"Physical growth of Swiss children from birth to 20 years of age","volume":"52","author":"Prader A","year":"1989","journal-title":"Helv Paediatr Acta Suppl"},{"key":"e_1_2_1_16_1","first-page":"123","volume-title":"Thoma's Oral Pathology","author":"Schulze C","year":"1970"},{"key":"e_1_2_1_17_1","first-page":"161","article-title":"Osteoglophone Skelettdysplasie\u2010Vuriantu einer generaliaierten fibr\u00f6sen Dysplasie?","volume":"12","author":"St\u00f6ss H","year":"1991","journal-title":"Pathologe"},{"key":"e_1_2_1_18_1","first-page":"151","article-title":"Developmental horizons in human embryos (fourth issue): A review of the histogenesis of cartilage and bone","volume":"33","author":"Streeter GL","year":"1949","journal-title":"Carnegie Inst Wash Pub 583, Contrib to Embryol"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470534","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470534","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T04:10:09Z","timestamp":1698293409000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470534"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,10]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1993,10]]}},"alternative-id":["10.1002\/ajmg.1320470534"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470534","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,10]]}}}