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_3
Snippet: ML II usually presents between 6 and 12 months of age with a clinical phenotype resembling that of Hurler syndrome and a radiological picture of dysostosis multiplex 18, 21, 22) . However, we recently encountered a rare case of ML II in which the patient exhibited intrauterine skeletal abnormalities and typical clinical features with severe secondary hyperparathyroidism at birth......
Document: ML II usually presents between 6 and 12 months of age with a clinical phenotype resembling that of Hurler syndrome and a radiological picture of dysostosis multiplex 18, 21, 22) . However, we recently encountered a rare case of ML II in which the patient exhibited intrauterine skeletal abnormalities and typical clinical features with severe secondary hyperparathyroidism at birth.
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