{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T04:34:19Z","timestamp":1789187659794,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5177,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 4 boys (including 2 maternally related first cousins) with a metaphyseal dysplasia of early onset and regressive evolution. Diagnosis is possible in the first months. Distal metaphyses of long bones are very irregular. Femoral necks seem hypoplastic and the edges of the metaphyses are almost vertical; femoral shaft is bowed. Those anomalies disappear after 2 years. The main manifestations are slight shortness and a light varus deformity of the lower limbs. Stature is not affected. The upper tibial growth cartilage, studied in one case, showed wide proliferative and hypertrophic zones with an unusual appearance of the last hypertrophic cells and an abnormal zone of cartilage calcification and resorption. The name \u201cmetaphyseal anadysplasia\u201d is suggested for this early and regressive disorder. We are aware of other forms of regressive metaphyseal dysplasia which deserve further delineation. Therefore infants whose radiological changes of metaphyseal dysplasia do not fall into one of the well\u2010defined types should be followed and prediction of the adult height should not be made on the basis of the findings on the initial examination.<\/jats:p>","DOI":"10.1002\/ajmg.1320390103","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:17:45Z","timestamp":1118546265000},"page":"4-10","source":"Crossref","is-referenced-by-count":22,"title":["Metaphyseal anadysplasia: A metaphyseal dysplasia of early onset with radiological regression and benign course"],"prefix":"10.1002","volume":"39","author":[{"given":"Pierre","family":"Maroteaux","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Stanescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritta","family":"Stanescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"55","article-title":"Hypophosphatasia","volume":"35","author":"Goldfischer S","year":"1976","journal-title":"Lab Invest"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00709160"},{"key":"e_1_2_1_4_1","volume-title":"Les Maladies Osseuses de l'Enfant","author":"Maroteaux P","year":"1982"},{"key":"e_1_2_1_5_1","first-page":"151","article-title":"Dwarfism in the Amish","volume":"77","author":"McKusick VA","year":"1964","journal-title":"Trans Assoc Am Phys"},{"key":"e_1_2_1_6_1","first-page":"577","article-title":"The tibial growing cartilage biopsy in the study of growth disturbance","volume":"64","author":"Stanescu V","year":"1970","journal-title":"Acta Endocrinol"},{"issue":"3","key":"e_1_2_1_7_1","first-page":"1","article-title":"Etude morphologique et biochimique du cartilage de croissance dans les ost\u00e9ochondrodysplasies","volume":"34","author":"Stanescu V","year":"1977","journal-title":"Arch Fr P\u00e9diatr"},{"key":"e_1_2_1_8_1","first-page":"471","article-title":"Electron microscopic examination of cartilage in the syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism","volume":"29","author":"Spycher MA","year":"1974","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"660","DOI":"10.2106\/00004623-198062040-00023","article-title":"Metaphyseal chondrodysplasia, Schmid type","volume":"62","author":"Wasylenko MJ","year":"1980","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00439884"},{"key":"e_1_2_1_11_1","first-page":"2225","article-title":"Dysostosis enchondralis metaphysaria (Typ Schmid) bei einem Neugeborenen mit Morbus haemolyticus neonatorum (Anti\u2010D)","volume":"25","author":"Wiersbitzky H","year":"1970","journal-title":"Dtsch. Gesundheite"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320390103","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320390103","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T13:27:57Z","timestamp":1698067677000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320390103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,4]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,4]]}},"alternative-id":["10.1002\/ajmg.1320390103"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320390103","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,4]]}}}