Clinical and Experimental Pediatrics

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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

Korean Journal of Pediatrics. 2012;55(11):438

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Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report

Takahiro Yamada, Hideaki Sawai, Gen Nishimura, Hironao Numabe, Kazutoshi Cho, Hisanori Minakami

Prenatal Diagnosis. 2009;29(7):715-717

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Mucolipidosis II presenting as severe neonatal hyperparathyroidism

Sheila 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-Furga

European Journal of Pediatrics. 2004;164(4):236-243

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Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

Parith Wongkittichote, Garland Michael Upchurch, Louis P. Dehner, Timothy Wood, Jorge L. Granadillo

Molecular Genetics and Metabolism Reports. 2021;27:100747

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Prenatal growth deficiency with narrowness of the cervical spine, subglottic stenosis, hip dislocation, and severe delayed bone ossification: A new skeletal dysplasia

André Mégarbané, Ismat Ghanem, Tony Rizk, Pascal Jabbour

American Journal of Medical Genetics. 2002;112(1):70-74

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Abstract #529: Mccune-Albright Syndrome and Primary Hyperparathyroidism: An Unsusual Case Presenting with Coexisting Brown Tumors and Fibrous Dysplasia

Spandana Brown

Endocrine Practice. 2017;23:115

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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

Tuenjai Chuangsuwanich, Prasert Sunsaneevithayakul, Kobkun Muangsomboon, Chanin Limwongse

Prenatal Diagnosis. 2005;25(3):210-215

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Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three-dimensional helical computed tomography

Shunsuke Tamaru, Akihiko Kikuchi, Kimiyo Takagi, Masao Wakamatsu, Kyoko Ono, Tsuguhiro Horikoshi, Gen Nishimura

Prenatal Diagnosis. 2009;29(13):1282-1284

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Prenatal Diagnosis of Fetal Skeletal Dysplasia Using 3-Dimensional Computed Tomography: A Case Series

Miyoko Waratani, Fumitake Ito, Yukiko Tanaka, Aki Mabuchi, Taisuke Mori, Jo Kitawaki

. 2020;

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Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia

Robert A. Saul, Virginia Proud, Harold A. Taylor, Jules G. Leroy, Jurgen Spranger

American Journal of Medical Genetics Part A. 2005;135A(3):328-332

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