{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T13:37:52Z","timestamp":1758634672284},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":8179,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1983,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Diastrophic dysplasia, an autosomal recessive disorder, results in severe short\u2010limbed dwarfism, progressive spinal and joint problems, and secondary psychosocial disability. The results of treatments are unsatisfactory.<\/jats:p><jats:p>Four pregnant mothers at risk for an affected fetus were studied with an ultrasound scanner at 16 and 19 weeks of gestation. Each mother had a previous child with diastrophic dysplasia. The biparietal distance and the length of the long bones of the extremities were normal in three fetuses, whereas in one fetus there was a 30 per cent shortening of all long bones. The biparietal distance corresponded with the gestational age in all fetuses. In one fetus, diastrophic dysplasia was confirmed by fetoscopy and fetal radiograph at 19 weeks of gestation after the parents had decided to terminate the pregnancy. The skeletal radiograph and autopsy findings of the fetus verified the diagnosis. All other mothers were followed with repeated ultrasound examinations, and they delivered healthy babies.<\/jats:p><jats:p>The retrospective follow\u2010up of the four previous pregnancies and of the present one with affected fetuses disclosed that two mothers had had vaginal bleeding, two lymphedema, one abdominal pains, and one mother had had polyhydramnios. These complications were, however, mild and transient, and they could not be regarded as specific for pregnancies with affected fetuses.<\/jats:p>","DOI":"10.1002\/pd.1970030309","type":"journal-article","created":{"date-parts":[[2007,3,3]],"date-time":"2007-03-03T23:33:06Z","timestamp":1172964786000},"page":"237-244","source":"Crossref","is-referenced-by-count":30,"title":["Early prenatal detection of diastrophic dysplasia"],"prefix":"10.1002","volume":"3","author":[{"given":"Ilkka","family":"Kaitila","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pirkko","family":"\u00c4mm\u00e4l\u00e4","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olavi","family":"Karjalainen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sirkka","family":"Liukkonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juhani","family":"Rapola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"529","DOI":"10.2106\/00004623-198062040-00006","article-title":"Disorders of the spine in diastrophic dwarfism","volume":"62","author":"Bethem D.","year":"1980","journal-title":"J. Bone Joint Surg."},{"key":"e_1_2_1_3_1","first-page":"12","article-title":"A lethal form of diastrophic dwarfism","author":"Freedman S. H.","year":"1974","journal-title":"Birth Defects: Orig. Articl. Ser."},{"key":"e_1_2_1_4_1","first-page":"517","volume-title":"Genetic Issues in Pediatrics and Obstetrics","author":"Hobbins J. C.","year":"1982"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(82)90735-9"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80896-8"},{"key":"e_1_2_1_7_1","first-page":"610","volume-title":"Population Structure and Genetic Disorders","author":"Kaitila I. I.","year":"1980"},{"key":"e_1_2_1_8_1","first-page":"153","article-title":"Orthopedic complications of dwarfism","volume":"144","author":"Kopits S. E.","year":"1976","journal-title":"Clin. Orthopaed."},{"key":"e_1_2_1_9_1","first-page":"5A","article-title":"The radiographic prenatal diagnosis of the generalized bone dysplasias and other skeletal abnormalities","author":"Lachman R.","year":"1979","journal-title":"Birth Defects: Orig. Articl. Ser."},{"key":"e_1_2_1_10_1","article-title":"Le nanisme diastrophique","volume":"68","author":"Lamy M.","year":"1960","journal-title":"Presse Med."},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.280.6227.1300"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(81)90713-4"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(80)90252-5"},{"key":"e_1_2_1_14_1","first-page":"1395","article-title":"Psychosocial problems caused by severe growth retardation and physical handicap. (In Finnish with an English summary)","volume":"98","author":"Reinikkala L.","year":"1982","journal-title":"Duodecim"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197201000-00003"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970030309","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970030309","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T00:24:10Z","timestamp":1697761450000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970030309"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,7]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1983,7]]}},"alternative-id":["10.1002\/pd.1970030309"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970030309","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,7]]}}}