- A Case of Beals-Hecht syndrome
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Bae WJ, Choi EK, Sin JB
- KMID: 2144545
- J Korean Soc Neonatol.
- 2005 Nov;12(2):222-226.
Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is a rare autosomal dominant, connective tissue disorder characterized by congenital joint contractures, arachnodactyly, dolichostenomelia, crumpled ear, and kyphoscoliosis. We report a... -
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- A Case of Madan's Syndrome
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Shyn KH, Chang WU, Kim SY, Seon DK
- KMID: 2107230
- J Korean Ophthalmol Soc.
- 1977 Mar;18(1):143-145.
Marfan's syndrome is another name of arachnodactyly and was firstly noted by Marfan in 1896. Salle found that ocular signs are also accompanied by this syndrome. Since then, many cases... -
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- A Case Report of Beals Syndrome with Hydrocephalus
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Shin WS, Choi IR, Kim SH, Lee JH, Park MS
- KMID: 2280865
- Korean J Perinatol.
- 2012 Sep;23(3):193-197.
Beals syndrome, also known as Beals-Hecht syndrome or congenital contractural arachnodactyly, is a rare, autosomal dominant connective tissue disorder. It is characterized by crumpled ears, arachnodactyly, congenital contractures and scoliosis.... -
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- A Case of Marfan's Syndrome
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Lee DS, Choi HK, Chung SH
- KMID: 1675868
- J Korean Ophthalmol Soc.
- 1968 Mar;9(1):37-39.
A case of Marfan's syndrome (Korean Army soldier, age 35) is reported. This case is hereditary disorder of connective tissue, especally affecting bones, eyes, ligaments, and tendons. The chief complaints... -
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- A Case Report of Madan's Syndrome
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Kim MA, Ham HK, Kim JH
- KMID: 2204626
- J Korean Ophthalmol Soc.
- 1976 Dec;17(4):545-549.
Marfan's Syndrome was a collagenous hereditary disorder affected by the long bone, heart and eyes. This typical arachnodactyly patient was 8 year old boy who has had visual disturbance due... -
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- A Case of Marden-Walker Syndrome
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Cho HJ, Lee YK, Kim DU, Choi BJ, Kim JT, Lee IJ, Ji JG
- KMID: 2335466
- J Korean Pediatr Soc.
- 1999 Oct;42(10):1471-1474.
Marden-Walder syndrome is characterized by a mask-like face, blepharophimosis, joint contractures, and psychometer retardation. We report a newborn infant with the clinical features of the syndrome. He was diagnosed with... -
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- A Case of Marfan Syndrome
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Park JJ, Cho HB, Park BY, Kim SS, Park SC
- KMID: 1677323
- Korean Circ J.
- 1985 Dec;15(4):681-688.
- doi: 10.4070/kcj.1985.15.4.681
The Marfan syndrome is classified as a heritable disorder of connective tissue with clinical and pathological alterations involving supporting elements. In its classic form, the Marfan syndrome is associated with... -
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- Intracranial Aneurysms Associated with Polycystic Kidney, and Marfan's Syndrome: Case Report
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Lee CY, Yim MB, Kim IS, Lee JC, Son EI, Kim DW, Kim IH
- KMID: 2187811
- J Korean Neurosurg Soc.
- 1992 Aug;21(8):1005-1010.
A case of an anterior communicating(Acom) artery aneurysm in a 36-year-old woman with polycystic kidney, and a case of multiple aneurysms(Acom. And anterior choroidal artery aneurysm) in a 49-year-old man... -
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- A Case of Aortic Dissection with Marfan Syndrome and Ankylosing Spondylitis
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Ryou JW, Park JY, Song EJ, Hur JW
- KMID: 2142907
- Korean J Med.
- 2013 Jun;84(6):873-877.
A 33-year-old male presented with an acute onset of back pain and abdominal pain. He was 189.9 cm tall and had an arm span of 194 cm, and had mild... -
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- The Relationship between hand and foot Length and Other Anthropometric Measurements in Neonates
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Kim HJ, Moon HR
- KMID: 1946118
- J Korean Pediatr Soc.
- 1980 Jul;23(7):511-520.
The hand length, foot length, middle finger length as percentage of total hand length, palm length, height, birth weight head circumference of 143 neonates of gestational ages ranging from twen-five... -
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- A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome
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Park MJ, Lee DH, Shin YL, Hong YH
- KMID: 2327702
- J Genet Med.
- 2016 Jun;13(1):41-45.
- doi: 10.5734/JGM.2016.13.1.41
Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component... -
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- Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea
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Heo JS, Song JY, Choi EY, Kim EH, Kim JH, Park SE, Jeon JH
- KMID: 2417577
- J Korean Med Sci.
- 2017 Jan;32(1):1-3.
- doi: 10.3346/jkms.2017.32.1.1
Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe... -
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- Cranioplasty in Frontometaphyseal Dysplasia
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Jung ES, Mun GH, Lim SY, Hyon WS, Bang SI, Oh KS, Pyun JK
- KMID: 2120115
- J Korean Soc Plast Reconstr Surg.
- 2006 May;33(3):371-375.
Frontometaphyseal dysplasia is a rare genetic syndrome first described by Gorlin and Cohen in 1969. This disease affects the skeletal system and connective tissue, and could be characterized by hyperostosis... -
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- A case of de novo duplication of 15q24-q26.3
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Kim EY, Kim YK, Kim MK, Jung JM, Jeon GW, Kim HR, Sin JB
- KMID: 2073642
- Korean J Pediatr.
- 2011 Jun;54(6):267-271.
- doi: 10.3345/kjp.2011.54.6.267
Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck,... -
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