{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:34:08Z","timestamp":1762004048653},"reference-count":17,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2007,9,12]],"date-time":"2007-09-12T00:00:00Z","timestamp":1189555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a boy and his mother affected with craniodiaphyseal dysplasia (CDD). The boy had a very severe form of the disease with extensive osteosclerosis already at birth. Facial diplegia, bilateral hearing loss and optic nerve atrophy were early, severe complications of the disease. At age 7 years progressive genu valgum and unusual epimetaphyseal radiographic appearances suggested hyperparathyroidism. This was confirmed by biochemical tests. Because of some facial similarity between the asymptomatic mother and the propositus, a limited skeletal survey of the mother was performed. It demonstrated cranial osteosclerosis and hyperostosis. It is possible that the mother has somatic mosaicism for a mutation of the genes causing CDD. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31938","type":"journal-article","created":{"date-parts":[[2007,9,12]],"date-time":"2007-09-12T21:47:38Z","timestamp":1189633658000},"page":"2435-2443","source":"Crossref","is-referenced-by-count":11,"title":["A boy with severe craniodiaphyseal dysplasia and apparently normal mother"],"prefix":"10.1002","volume":"143A","author":[{"given":"Tadeusz","family":"Bieganski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dobromila","family":"Baranska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irmina","family":"Miastkowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Artur","family":"Kobielski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Gorska\u2010Chrzastek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazimierz","family":"Kozlowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,9,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2005-0239"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.11.701"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1148\/25.6.723"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.18003714509"},{"key":"e_1_2_5_6_1","first-page":"404","article-title":"An unusual case of periosteal deformity of the cranium and some of the skeletal bones (periostoso\u2010osteosclerosis)","volume":"11","author":"Jakimowicz M","year":"1970","journal-title":"Acta Med Pol"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200310000-00007"},{"key":"e_1_2_5_8_1","unstructured":"KaitilaI StewartRE LandowE LachmanR RimoinDL.1975.Craniodiaphyseal dysplasia. In: Bergsma D editor. Disorders of connective tissue. Birth Defects 1975. Original Article Series 11 6:369\u2013361."},{"key":"e_1_2_5_9_1","first-page":"221","article-title":"A craniotubular bone modeling disorders: A neurosurgical introduction to rare skeletal dysplasias with cranial nerve compression","volume":"7","author":"Kirkpatrick DB","year":"1977","journal-title":"Surg Neurol"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050524"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1987.tb01868.x"},{"key":"e_1_2_5_12_1","first-page":"22","article-title":"Craniodiaphyseal dysplasia, a disease or group of diseases?","volume":"25","author":"Macpherson RI","year":"1974","journal-title":"J Can Assoc Radiol"},{"key":"e_1_2_5_13_1","first-page":"350","volume-title":"Maladies osseuses de l'enfant","author":"Maroteaux P","year":"2002"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01895.x"},{"key":"e_1_2_5_15_1","volume-title":"Bone dysplasias. An atlas of genetic disorders of skeletal development","author":"Spranger JW","year":"2002"},{"key":"e_1_2_5_16_1","first-page":"393","article-title":"On Paget disease with leontiasis ossea and hypothyreosis, starting in early childhood","volume":"199","author":"Stransky E","year":"1962","journal-title":"Ann Paediatr"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31483"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00347727"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31938","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31938","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:40:45Z","timestamp":1697593245000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31938"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9,12]]},"references-count":17,"journal-issue":{"issue":"20","published-print":{"date-parts":[[2007,10,15]]}},"alternative-id":["10.1002\/ajmg.a.31938"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31938","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,9,12]]}}}