Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Kun-Shuo Huang"'
Autor:
Chih-Ping Chen, Jian-Pei Huang, Kun-Shuo Huang, Yi-Yung Chen, Fang-Tzu Wu, Yen-Ting Pan, Chien-Ling Chiu, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 3, Pp 387-390 (2024)
Objective: We present perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking th
Externí odkaz:
https://doaj.org/article/efa37a57cf2c4f2c903310a1f3e459a8
Autor:
Ya-Ting Jan, Pei-Shan Tsai, Wen-Hui Huang, Shih-Chieh Huang, Yu-Peng Liu, She-Meng Cheng, Kun-Shuo Huang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)
Abstract Background In patients with mucopolysaccharidosis (MPS), systematic assessment and management of cervical instability, cervicomedullary and thoracolumbar junction spinal stenosis and spinal cord compression averts or arrests irreversible neu
Externí odkaz:
https://doaj.org/article/01a23652846f4a35a5ebd60d5487f615
Publikováno v:
Journal of Pediatric Surgery. 45:1559-1561
A 6-year-old boy presented with fever of 2 days of duration and had blood tests demonstrating leukocytosis and impaired liver function. Abdominal sonogram incidentally revealed 2 cystic lesions within the pelvis. Further contrast-enhanced abdominal c