{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:04:47Z","timestamp":1761717887537},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,10,2]],"date-time":"2002-10-02T00:00:00Z","timestamp":1033516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dolichospondylic dysplasia (DD) is a rare skeletal dysplasia primarily characterized by tall vertebral bodies and disproportionate short stature. Radiographic manifestations include tall vertebral bodies and gracile bones of the hands. Patients usually have eye and ear findings in addition to borderline mental retardation; however, tall vertebral bodies and slender tubular bones are also seen in the 3\u2010M syndrome. Patients with the 3\u2010M syndrome have a characteristic face with a triangular shape, frontal bossing, a flattened malar region, full eyebrows, a short nose with a bulbous tip, upturned nares, and full lips. We present two unrelated patients who share a distinct phenotype and have tall vertebral bodies, overtubulation of long bones, and short tubular bones of the hands and feet. We discuss the overlapping and distinguishing features between DD and the 3\u2010M syndrome. Patient 1 was a 13\u2010year\u2010old female, and patient 2 was an unrelated adult female. These patients had normocephaly and short stature. They shared a common phenotype consisting of mild malar hypoplasia, a narrowed nasal body with a fleshy tip, full lips, and normal intelligence. In addition, they showed mild hand and foot abnormalities. These two patients lack many of the typical clinical features of both DD and the 3\u2010M syndrome. They share a common phenotype and likely represent a distinct disorder. The spectrum of disorders with tall vertebral bodies as a key feature may include different entities that may be further defined with the characterization of the molecular defect(s). \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.10656","type":"journal-article","created":{"date-parts":[[2002,12,2]],"date-time":"2002-12-02T13:52:40Z","timestamp":1038837160000},"page":"351-361","source":"Crossref","is-referenced-by-count":8,"title":["Spectrum of dolichospondylic dysplasia: Two new patients with distinctive findings"],"prefix":"10.1002","volume":"113","author":[{"given":"Alison M.","family":"Elliott","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"John M.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia J.R.","family":"Curry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuya","family":"Pal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,10,2]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"355","article-title":"Dwarfism associated with borderline intelligence, microcephaly, microphthalmia and vertebral anomalies","author":"Barber ND","year":"1979","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_3_1","first-page":"96","article-title":"Dolichospondylic dysplasia: syndromic short stature with tall vertebral bodies","volume":"3","author":"Flannery DB","year":"1984","journal-title":"Proc Greenwood Genet Center"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320220"},{"key":"e_1_2_5_5_1","first-page":"271","article-title":"Familial dwarfism with disproportionately high vertebral bodies [German]","volume":"16","author":"Fuhrmann W","year":"1972","journal-title":"Humangenetik"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/BF00271577","article-title":"Heterozygous expression in 3\u2010M slender\u2010boned nanism","volume":"52","author":"Garcia\u2010Cruz D","year":"1979","journal-title":"Hum Genet"},{"key":"e_1_2_5_7_1","first-page":"388","article-title":"Growth and development of the vertebral body in the presence and absence of normal stress","volume":"93","author":"Gooding CA","year":"1965","journal-title":"AJR Am J Roentgenol"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280127"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200011)20:11<921::AID-PD947>3.0.CO;2-B"},{"issue":"5","key":"e_1_2_5_10_1","first-page":"39","article-title":"The 3\u2010M syndrome: a heritable low birth\u2010weight dwarfism","author":"Miller JD","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_11_1","first-page":"707","article-title":"Dwarfism with high narrow vertebrae. Two new cases [French]","volume":"30","author":"Rochiccioli P","year":"1983","journal-title":"Ann Pediatr"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442641"},{"key":"e_1_2_5_13_1","unstructured":"van der BurgtI BrunnerHG van der WalG OttenBJ.2000.Gonadal dysfunction in males with 3\u2010M syndrome. Poster presentation at the 9th Manchester Birth Defects Conference in Manchester England November."},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200110000-00002"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.10656","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.10656","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T18:24:34Z","timestamp":1696962274000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.10656"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,10,2]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,12,15]]}},"alternative-id":["10.1002\/ajmg.b.10656"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.10656","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,10,2]]}}}