PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Korean Journal of Pediatrics10.3345/kjp.2012.55.11.43820125511438A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birthJu Sun Heo, Ka Young Choi, Se Hyoung Sohn, Curie Kim, Yoon Joo Kim, Seung Han Shin, Jae Myung Lee, Juyoung Lee, Jin A Sohn, Byung Chan Lim, Jin A Lee, Chang Won Choi, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choihttp://kjp.or.kr/upload/pdf/kjped-55-438.pdf
Prenatal Diagnosis10.1002/pd.22682009297715-717Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case reportTakahiro Yamada, Hideaki Sawai, Gen Nishimura, Hironao Numabe, Kazutoshi Cho, Hisanori Minakamihttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.2268, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.2268, http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.2268/fullpdf
European Journal of Pediatrics10.1007/s00431-004-1591-x20041644236-243Mucolipidosis II presenting as severe neonatal hyperparathyroidismSheila Unger, David A. Paul, Michelle C. Nino, Charles P. McKay, Stephen Miller, Etienne Sochett, Nancy Braverman, Joe T. R. Clarke, David E. C. Cole, Andrea Superti-Furgahttp://link.springer.com/content/pdf/10.1007/s00431-004-1591-x.pdf, http://link.springer.com/article/10.1007/s00431-004-1591-x/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00431-004-1591-x
Molecular Genetics and Metabolism Reports10.1016/j.ymgmr.2021.100747202127100747Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infantParith Wongkittichote, Garland Michael Upchurch, Louis P. Dehner, Timothy Wood, Jorge L. Granadillohttps://api.elsevier.com/content/article/PII:S2214426921000410?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S2214426921000410?httpAccept=text/plain
American Journal of Medical Genetics10.1002/ajmg.106532002112170-74Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: A new skeletal dysplasiaAndré Mégarbané, Ismat Ghanem, Tony Rizk, Pascal Jabbourhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.10653, https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.10653
Endocrine Practice10.1016/s1530-891x(20)44469-6201723115Abstract #529: Mccune-Albright Syndrome and Primary Hyperparathyroidism: An Unsusual Case Presenting with Coexisting Brown Tumors and Fibrous DysplasiaSpandana Brownhttps://api.elsevier.com/content/article/PII:S1530891X20444696?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1530891X20444696?httpAccept=text/plain
Prenatal Diagnosis10.1002/pd.11012005253210-215Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literatureTuenjai Chuangsuwanich, Prasert Sunsaneevithayakul, Kobkun Muangsomboon, Chanin Limwongsehttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.1101, https://onlinelibrary.wiley.com/doi/full/10.1002/pd.1101
Skeletal Radiology10.1007/s00256-022-04122-52022Secondary osteosarcoma associated with osteofibrous dysplasia: a case reportNaohiro Oka, Kazuhiko Hashimoto, Shunji Nishimura, Osamu Maenishi, Masao Akagihttps://link.springer.com/content/pdf/10.1007/s00256-022-04122-5.pdf, https://link.springer.com/article/10.1007/s00256-022-04122-5/fulltext.html, https://link.springer.com/content/pdf/10.1007/s00256-022-04122-5.pdf
Limb Lengthening and Reconstruction Surgery Case Atlas10.1007/978-3-319-18023-6_3392015691-700Case 96: Severe Genu Valgum in Skeletal Dysplasia: Acute Versus Gradual CorrectionReggie C. Hamdy, Neil Saranhttp://link.springer.com/content/pdf/10.1007/978-3-319-18023-6_339
Prenatal Diagnosis10.1002/pd.2406200929131282-1284Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three-dimensional helical computed tomographyShunsuke Tamaru, Akihiko Kikuchi, Kimiyo Takagi, Masao Wakamatsu, Kyoko Ono, Tsuguhiro Horikoshi, Gen Nishimurahttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.2406, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.2406, http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.2406/fullpdf