{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T18:18:30Z","timestamp":1786558710053,"version":"build-2736575974"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,11]]},"DOI":"10.1097\/bpb.0b013e3282f05675","type":"journal-article","created":{"date-parts":[[2011,3,30]],"date-time":"2011-03-30T03:25:31Z","timestamp":1301455531000},"page":"443-445","source":"Crossref","is-referenced-by-count":22,"title":["Cervical spine stenosis in chondrodysplasia punctata"],"prefix":"10.1097","volume":"16","author":[{"given":"Philippe","family":"Violas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Fraisse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Chapuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri","family":"Bracq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-11-20210128","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/10350","article-title":"Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata","volume":"22","author":"Derry","year":"1999","journal-title":"Nat Genet"},{"key":"R2-11-20210128","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1046\/j.1365-4362.2000.00095.x","article-title":"Cholesterol metabolism defect associated with Conradi-Hunerman-Happle syndrome","volume":"39","author":"DiPreta","year":"2000","journal-title":"Int J Dermatol"},{"key":"R3-11-20210128","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1203\/00006450-200003000-00001","article-title":"Cholesterol synthesis and skeletal formation","volume":"47","author":"Gibson","year":"2000","journal-title":"Pediatr Res"},{"key":"R4-11-20210128","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0065-3101(23)00093-2","article-title":"Inborn errors of cholesterol biosynthesis","volume":"47","author":"Kelley","year":"2000","journal-title":"Adv Pediatr"},{"key":"R5-11-20210128","first-page":"425","article-title":"The Conradi-Hunermann-Happle syndrome is caused by mutations in the gene that encodes a 8\u20137 sterol isomerase and is biochemically related to the CHILD syndrome","volume":"10","author":"Traupe","year":"2000","journal-title":"Eur J Dermatol"},{"key":"R6-11-20210128","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1023\/A:1005353129761","article-title":"Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata","volume":"21","author":"Wanders","year":"1998","journal-title":"J Inherit Metab Dis"},{"key":"R7-11-20210128","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.2106\/00004623-198163090-00007","article-title":"Spinal disorders of dwarfism: review of the literature and report of eighty cases","volume":"63","author":"Bethem","year":"1981","journal-title":"J Bone Joint Surg Am"},{"key":"R8-11-20210128","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0022-3476(68)80401-9","article-title":"Conradi's disease: chondrodystrophia calcificans congenita, congenital stippled epiphyses","volume":"72","author":"Comings","year":"1968","journal-title":"J Pediatr"},{"key":"R9-11-20210128","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/0730-725X(90)90144-Q","article-title":"Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis","volume":"8","author":"Goodman","year":"1990","journal-title":"Magn Reson Imaging"},{"key":"R10-11-20210128","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0030-5898(20)30877-4","article-title":"Heritable disorders in orthopedics","volume":"9","author":"Wynne-Davies","year":"1978","journal-title":"Orthop Clin North Am"},{"key":"R11-11-20210128","first-page":"338","article-title":"A review of genetics in orthopaedics","volume":"46","author":"Wynne-Davies","year":"1975","journal-title":"Acta Orthop Scand"},{"key":"R12-11-20210128","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/BF00284052","article-title":"Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form","volume":"82","author":"Maroteaux","year":"1989","journal-title":"Hum Genet"},{"key":"R13-11-20210128","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1097\/00007632-200209150-00007","article-title":"Spinal deformity in chondrodysplasia punctata","volume":"27","author":"Mason","year":"2002","journal-title":"Spine"},{"key":"R14-11-20210128","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1002\/1096-8628(20010215)99:1<63::AID-AJMG1117>3.0.CO;2-9","article-title":"Cervical stenosis secondary to rhizomelic chondrodysplasia punctata","volume":"99","author":"Khanna","year":"2001","journal-title":"Am J Med Genet"},{"key":"R15-11-20210128","first-page":"826","article-title":"Cervical spinal cord compression in chondrodysplasia punctata: report of two cases","volume":"39","author":"Pascual-Castroviejo","year":"2004","journal-title":"Rev Neurol"},{"key":"R16-11-20210128","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1007\/s00247-001-0638-7","article-title":"Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases","volume":"6","author":"Herman","year":"2002","journal-title":"Pediatr Radiol"},{"key":"R17-11-20210128","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/ajmg.a.20242","article-title":"Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system","volume":"122","author":"Eash","year":"2003","journal-title":"Am J Med Genet A"}],"container-title":["Journal of Pediatric Orthopaedics B"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.1097\/BPB.0b013e3282f05675","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T18:59:34Z","timestamp":1786042774000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01202412-200711000-00011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007]]}},"URL":"https:\/\/doi.org\/10.1097\/bpb.0b013e3282f05675","relation":{},"ISSN":["1060-152X"],"issn-type":[{"value":"1060-152X","type":"print"}],"subject":[],"published":{"date-parts":[[2007,11]]}}}