{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:21:16Z","timestamp":1791897676564,"version":"4.3.4"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5848,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Brachyolmia refers to a form of skeletal dysplasia characterized by general platyspondyly without significant epiphyseal, metaphyseal, or diaphyseal changes in the long bones. As a result of a study of 11 patients from 7 different families and a review of the literature we propose that there are 3 and possibly 4 different types of brachyolmia:\n<jats:list list-type=\"explicit-label\">\n<jats:list-item><jats:p><jats:italic>Hobaek type<\/jats:italic>\u2014an autosomal recessive condition with universal platyspondyly, irregular, and reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae. Rectangular and elongated vertebral bodies are seen on lateral views of the spine, which become more pronounced with age.<\/jats:p><jats:p><jats:italic>Toledo type<\/jats:italic>\u2014radiographically similar to Hobaek type but also associated with corneal opacities and precocious ossification of costal cartilage. It is uncertain as to whether this represents variability or heterogeneity.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p><jats:italic>Maroteaux type<\/jats:italic>\u2014an autosomal recessive disorder that is distinguished from Hobaek type by rounding of the anterior and posterior vertebral borders with less elongation on lateral view and less lateral extension on A.P. view. This type may be associated with precocious calcification of the falx cerebri, and minor facial anomalies.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p><jats:italic>Dominant<\/jats:italic> type\u2014a previously underscribed form which we have observed in a mother and her son. This type has the most severe vertebral changes with flattening and irregularities of the cervical spine.<\/jats:p><\/jats:list-item>\n<\/jats:list>\nThese clinical, radiological, and genetic differences suggest genetic heterogeneity in this group of platyspondylic disorders.<\/jats:p>","DOI":"10.1002\/ajmg.1320330214","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:02:45Z","timestamp":1118545365000},"page":"209-219","source":"Crossref","is-referenced-by-count":58,"title":["Brachyolmia: Radiographic and genetic evidence of heterogeneity"],"prefix":"10.1002","volume":"33","author":[{"given":"M.","family":"Shohat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. E.","family":"Gruber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1445-2197.1933.tb02609.x"},{"key":"e_1_2_1_3_1","first-page":"116","article-title":"La platibrachispondilia, forma localizzata dell'osteocondrodistrofia dell'accrescimento","volume":"3","author":"Calvetti P","year":"1978","journal-title":"Minerva Chir"},{"key":"e_1_2_1_4_1","first-page":"695","article-title":"Pure spondylar dysplasia or brachyolmy. Apropos of a case","volume":"32","author":"Fontaine G","year":"1975","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-8-91-457"},{"key":"e_1_2_1_6_1","first-page":"82","volume-title":"Problems of Hereditary Chondrodysplasias. A Roentgenological, Clinical and Genetic Study of 70 cases of Hereditary Chondrodysplasiae in 42 Norwegian Families","author":"Hobaek A","year":"1961"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160210"},{"key":"e_1_2_1_8_1","first-page":"89","volume-title":"Skeletal Dysplasias","author":"Kozlowski K","year":"1982"},{"key":"e_1_2_1_9_1","first-page":"50","volume-title":"Les Chondrodystrophies Genotypiques","author":"Lamy M","year":"1961"},{"key":"e_1_2_1_10_1","first-page":"88","volume-title":"Ein Kurzes Handbuch in Fuenf Baenden","author":"Lenz W","year":"1964"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(59)90418-0"},{"key":"e_1_2_1_12_1","first-page":"34","volume-title":"Skeletal Dysplasia","author":"Maroteaux P","year":"1969"},{"key":"e_1_2_1_13_1","first-page":"81","volume-title":"Bone Diseases of Children","author":"Maroteaux P","year":"1979"},{"key":"e_1_2_1_14_1","first-page":"35","volume-title":"Essai de Classification des Dysplasies Spondylo\u2010\u00c9piphysaires","author":"Maroteaux P","year":"1969"},{"key":"e_1_2_1_15_1","first-page":"110","volume-title":"Mendelian Inheritance in Man \u2010 Catalog of Autosomal Dominant, Autosomal Recessive and X\u2010Linked Pheno\u2010types","author":"McKusick VA","year":"1986"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(73)90062-8"},{"key":"e_1_2_1_17_1","first-page":"267","article-title":"Contribution clinical of estudio de la distrofia epifisaria multiple","volume":"10","author":"Ottolenghi CE","year":"1941","journal-title":"Rev Ortop Traum"},{"key":"e_1_2_1_18_1","first-page":"55","article-title":"Osteochondrodystrophy (Morquio, Brails\u2010ford type) Occurrence in three siblings","volume":"88","author":"Smith R","year":"1958","journal-title":"Calif Med"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286853"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020408"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320330214","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320330214","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T03:27:09Z","timestamp":1697945229000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320330214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,6]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1989,6]]}},"alternative-id":["10.1002\/ajmg.1320330214"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320330214","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,6]]}}}