Selected article for: "analysis result and study result"
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_5
    Snippet: A 29-year-old woman visited the obstetrics clinic at Seoul National University Hospital for a prenatal screening ultrasound at 28 +6 weeks of gestation. The mother reported no specific history of medication or illness except hypertension. Ultrasound findings indicated intrauterine growth retardation and skeletal dysplasia. Oligohydramnios was not present. Amniocentesis was conducted at 31 +1 weeks. Chromosomal analysis revealed a 46, XX karyotype.....
    Document: A 29-year-old woman visited the obstetrics clinic at Seoul National University Hospital for a prenatal screening ultrasound at 28 +6 weeks of gestation. The mother reported no specific history of medication or illness except hypertension. Ultrasound findings indicated intrauterine growth retardation and skeletal dysplasia. Oligohydramnios was not present. Amniocentesis was conducted at 31 +1 weeks. Chromosomal analysis revealed a 46, XX karyotype, and the result of the achondroplasia gene study was negative.

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