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A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth |
Ju 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 Choi |
Clin Exp Pediatr. 2012;55(11):438-444. Published online November 23, 2012 DOI: https://doi.org/10.3345/kjp.2012.55.11.438 |
A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report Mucolipidosis II presenting as severe neonatal hyperparathyroidism Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: A new skeletal dysplasia Abstract #529: Mccune-Albright Syndrome and Primary Hyperparathyroidism: An Unsusual Case Presenting with Coexisting Brown Tumors and Fibrous Dysplasia Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three-dimensional helical computed tomography Fetus in fetu with skeletal dysplasia and hyperparathyroidism Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia |