- The experimental of Saethre-Chotzen syndrome: case report
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Lew DH, Park BY, Lee YH
- KMID: 1683914
- J Korean Soc Plast Reconstr Surg.
- 1991 Mar;18(2):281-286.
No abstract available. -
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- A Case of Pfeiffer Syndrome
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Park MS, Yoo JE, Chung J, Yoon SH
- KMID: 1781856
- J Korean Med Sci.
- 2006 Apr;21(2):374-378.
- doi: 10.3346/jkms.2006.21.2.374
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The... -
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- Radiologic investigation of Apert syndrome (acrocephalosyndactyly type 1): a case report
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Lee YH, Cho WY, Kim MS, Hong IS, Sung KJ, Yang JS
- KMID: 2367263
- J Korean Radiol Soc.
- 1991 Mar;27(2):289-292.
No abstract available. -
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- Experiences in the treatment of orbital hypertelorism secondary to frontoethmoidal meningoencephaloceles and Saethre-Chotzen syndrome
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Han KH, Park SG, Song JW, Kang JS
- KMID: 1683915
- J Korean Soc Plast Reconstr Surg.
- 1991 Mar;18(2):287-300.
No abstract available. -
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- A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
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Lee MY, Jeon GW, Jung JM, Sin JB
- KMID: 2073610
- Korean J Pediatr.
- 2010 Jul;53(7):774-777.
- doi: 10.3345/kjp.2010.53.7.774
Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live... -
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- Apert Syndrome: A Report of One Case
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Hwang JK, Lee DS, Lim JK, Song JS
- KMID: 2445950
- J Korean Orthop Assoc.
- 1986 Oct;21(5):939-942.
- doi: 10.4055/jkoa.1986.21.5.939
Apert described acrocephalosyndactly as a clinical entity in 1906. The classic description of this syndrome includes patient with a combination of acrocephaly and syndactyly of either fingers, toes or both.... -
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- A Case of Apert syndrome(Acrocephaosyndactyly)
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Chang IS, Yang DK, Kim KB
- KMID: 1663647
- J Korean Pediatr Soc.
- 1978 Aug;21(8):605-610.
Apert syndrome is a rare disorder characterized by malformation of the skull, (usually oxyce-phaly or acrocephaly), in association with sys temic syndactyly It is due to congenital disturbance in the... -
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- Apert Syndrome A Case Report and Analysis of the Reported Cases in Korea
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Park MS, Choi TH
- KMID: 2444617
- J Korean Orthop Assoc.
- 1988 Jun;23(3):904-910.
- doi: 10.4055/jkoa.1988.23.3.904
Apert syndrome, or acrocephalosyndactyly is a complex of associated malformations, which are craniosynostosis and symmetric complex syndactyly of the hands and feet. The syndrome was first described by Apert in... -
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- Apert Syndrome: A Report of One Case
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Suk SI, Cho HO, Choi JS
- KMID: 2460365
- J Korean Orthop Assoc.
- 1978 Sep;13(3):507-512.
- doi: 10.4055/jkoa.1978.13.3.507
Apert described acrocephalosyndactyly as a clinical entity in 1906. At first he included a patient with craniofacial deformities combined with syndactyly of both the upper and lower extremities. This is... -
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- A Case of Acrocephalosyndactyly
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Cho YS, Park SC, Yun SH, Cho JD
- KMID: 1664174
- J Korean Pediatr Soc.
- 1979 Sep;22(9):818-823.
Apert first described acrocephalosyndactyly as a clinical entity in 1906. Since that time, more than 200 cases have been reported in the world literature. Acrocephalosyndactyly is a rare congenital disturbance... -
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- Three Cases of Apert Syndrome (Acrocephalosyndactyly)
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Ahn YS, Lee JW, Bang J, Lee DB
- KMID: 2208507
- J Korean Pediatr Soc.
- 1994 Aug;37(8):1149-1155.
Apert syndrome is an uncommon, congenital disorder characterised by malformation of the skull, most often acrocephaly or oxycephaly, in association with symmetrical syndactyly of both hands and feet. It is... -
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- A Case of Apert Syndrome Expressed On One Neonate of Dizygotic Twin
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Choi YK, Hong JM, Ko KO, Yoo YD
- KMID: 2144578
- J Korean Soc Neonatol.
- 2001 Nov;8(2):272-275.
Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull, most often acrocephaly or oxycephaly, in association with symmetrical syndactyly of both hands and feet. It is... -
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- A Case Report of Pfeiffer Syndrome with Spinal Anomaly
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Shin CH, Yi BH, Hong HS, Lee HK, Park SJ
- KMID: 1471161
- J Korean Soc Radiol.
- 2009 Jan;60(1):57-60.
- doi: 10.3348/jksr.2009.60.1.57
Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull as well as skeletal deformities, including broad thumbs, great toes, and mid-face... -
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- A Case of Pfeiffer Syndrome with Hydrocephalus and Multiple Congenital Anomalies
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Yun KW, Rhee KW, Lim IS, Choi ES, Ryu BH
- KMID: 2099096
- J Korean Soc Neonatol.
- 2005 May;12(1):87-92.
Pfeiffer syndrome is one of a rare form of craniosynostosis syndrome, showing variable degree of craniosynostosis, midface hypoplasia, broad thumbs and toes and syndactyly. This is transmitted in autosomal dominant... -
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- Anesthetic management of a child with Apert syndrome : A case report
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Kim YU, Choeong YS, Lee HM, Choi DK, Song JG, Choi KT
- KMID: 2046042
- Anesth Pain Med.
- 2009 Oct;4(4):352-354.
Apert syndrome involves abnormal growth of several bones such as craniofacial abnormalities, craniosynostosis and syndactyly of the feet and hands. Apert syndrome often demonstrates to the operating room for craniofacial... -
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- Pfeiffer Syndrome
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Lee DY, Lee KH, Kim HS, Moon HR
- KMID: 2445534
- J Korean Orthop Assoc.
- 1989 Dec;24(6):1744-1749.
- doi: 10.4055/jkoa.1989.24.6.1744
Pfeiffer syndrome, an unusual type of acrocephalosyndactyly, is a complex of associated malformations, first described by Pfeiffer in 1964. In addition to the common head and face anomalies seen in... -
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- A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII
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Lee YJ, Ko JM, Park SS, Cheon CK
- KMID: 2184481
- J Genet Med.
- 2010 Dec;7(2):151-155.
Apert syndrome is a rare congenital anomaly characterized by craniofacial malformations and severe symmetrical syndactyly of fingers and toes. This syndrome is caused by a genetic mutation; the S253 mutation... -
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- Severe Hyperhidrosis in Apert Syndrome: A Case Report
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Lee H, Choi S, Yang JH, Moon J, Suh DH
- KMID: 2465921
- Korean J Dermatol.
- 2019 Nov;57(9):548-550.
Apert syndrome is a rare genetic disorder characterized by malformations of the skull, face, hands, and feet. We report a case of severe hyperhidrosis in a 13-month-old female infant with... -
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- Preoperative Planning for Reconstruction of Apert Skull
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Kim YS, Choi HY, Kim SI
- KMID: 2010266
- J Korean Neurosurg Soc.
- 1997 Dec;26(12):1733-1738.
Apert syndrome is characterized by a hyperacrobrachycephalic skull with a flattened occiput, and malformations of the midface, hands and feet, as well as complicated multiple craniosynostosis and dysmorphism of the... -
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- A case of Apert's Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon IIIa Mutation
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Kim HS, Yang PS, Kang JY, Kim OY, Ku CH, Lee WM
- KMID: 2335506
- J Korean Pediatr Soc.
- 2000 Jul;43(7):1006-1011.
Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosornal dominant. The original description was... -
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