Author: Heo, Ju Sun; Choi, Ka Young; Sohn, Se Hyoung; Kim, Curie; Kim, Yoon Joo; Shin, Seung Han; Lee, Jae Myung; Lee, Juyoung; Sohn, Jin A; Lim, Byung Chan; Lee, Jin A; Choi, Chang Won; Kim, Ee-Kyung; Kim, Han-Suk; Kim, Beyong Il; Choi, Jung-Hwan
Title: A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth Document date: 2012_11_23
ID: 5b6z7cqx_21
Snippet: In conclusion, severe cases of ML II can present earlier as prenatal skeletal dysplasia and neonatal severe secondary hyperparathyroidism, as in the present case. Therefore, ML II must be considered if the patient presents with intrauterine skeletal dysplasia or severe osteopenia and rickets-like radiologic features at birth, and a prompt evaluation should be conducted......
Document: In conclusion, severe cases of ML II can present earlier as prenatal skeletal dysplasia and neonatal severe secondary hyperparathyroidism, as in the present case. Therefore, ML II must be considered if the patient presents with intrauterine skeletal dysplasia or severe osteopenia and rickets-like radiologic features at birth, and a prompt evaluation should be conducted.
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