- A Case of Antley-Bixler Syndrome
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Kim YR, Park KI, Yoon CS, Namgung R, Lee C, Han DG
- KMID: 2208317
- J Korean Pediatr Soc.
- 1995 Apr;38(4):582-585.
Antley-Bixler syndrome is a very rare disese of characteristic feature of craniosynostosis, brachycephaly, midface hypoplasia, depressed nasal bridge, radiohumeral synostosis and bowing femur. We presented a case of Antley-Bixtler syndrome... -
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- Anesthetic management of a neonate with Antley-Bixler syndrome: A case report
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Kwon YS, Jo JK, Lim YH, Yon JH, Kim KM
- KMID: 2169202
- Anesth Pain Med.
- 2011 Jan;6(1):89-92.
Antley-Bixler syndrome is a congenital anomaly of multiple bones and cartilage, and this was first reported by Antley and Bixler in 1975. It is characterized by craniosynostosis, midface hypoplasia with... -
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- A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene
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Oh J, Song JS, Park JE, Jang SY, Ki CS, Kim DK
- KMID: 2426004
- Ann Lab Med.
- 2017 Nov;37(6):559-562.
- doi: 10.3343/alm.2017.37.6.559
No abstract available. -
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- Genetic Syndromes Associated with Craniosynostosis
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Ko JM
- KMID: 2192082
- J Korean Neurosurg Soc.
- 2016 May;59(3):187-191.
- doi: 10.3340/jkns.2016.59.3.187
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including... -
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- Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR
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Woo H, Ko JM, Shin CH, Yang SW
- KMID: 2327700
- J Genet Med.
- 2016 Jun;13(1):31-35.
- doi: 10.5734/JGM.2016.13.1.31
Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to... -
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