- A case study of cleidocranial dysostosis
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Lee JS
- KMID: 2346100
- J Korean Radiol Soc.
- 1966 Nov;2(1):69-70.
- doi: 10.3348/jkrs.1966.2.1.69
No abstract available. -
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- Surgical Treatment of the Craniofacial Dysostoses-Crouzon's Disease
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Kang JK, Song JU, Kim JC, Lim P
- KMID: 2068317
- J Korean Neurosurg Soc.
- 1987 Mar;16(1):289-296.
Craniofacial dysostoses(Crouzon's disease) are characterized by cranial and facial deformities but the relationship between the craniosynostosis and facial deformities has not been clearly established. However, we believe that certain facial... -
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- Pyknodysostosis: report of a rare case with review of literature
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Ramaiah KK, George GB, Padiyath S, Sethuraman R, Cherian B
- KMID: 2167404
- Imaging Sci Dent.
- 2011 Dec;41(4):177-181.
- doi: 10.5624/isd.2011.41.4.177
Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges,... -
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- Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis
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Ko JM, Kwack KS, Kim SH, Kim HJ
- KMID: 2184480
- J Genet Med.
- 2010 Dec;7(2):145-150.
Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had... -
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- Binder Syndrome Infant Born from Mother with Cholelithiasis
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Lee HJ, Lee KM, Kim DH, Kim DH, Lee JA, Park KD, Lim JS
- KMID: 1482021
- J Korean Soc Pediatr Endocrinol.
- 2008 Dec;13(2):188-192.
Binder syndrome is a maxillonasal dysostosis characterized by midface and nasal hypoplasia. It is sometimes associated with short terminal phalanges of fingers and toes and transient radiological features of chondrodysplasia... -
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- Acrofacial dysostosis: a case report
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Lee BD
- KMID: 1960845
- J Korean Assoc Maxillofac Plast Reconstr Surg.
- 1999 May;21(2):220-224.
The acrofacial dysostosis(AFD) is a rare heterogenous disorders combining varying severities of mandibulofacial dysostosis(MFD) with pre and/or post axial limb abnormalities. The Nager syndrome is characterized by preaxial limb defects... -
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- Nager Syndrome associated with 45,X Monosomy
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Chung JH, Chi JG
- KMID: 1963056
- J Genet Med.
- 1997 Sep;1(1):1-4.
Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis.The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this... -
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- Jarcho-Levin Syndrome with Diastematomyelia: Case Report of an Adult Patient and Review of Literature
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Kim YS, Lee JH, Kang MJ, Bae KE, Kim JH, Jeong MJ, Kim SH, Kim JY, Kim SH, Lee HB
- KMID: 1823938
- J Korean Soc Radiol.
- 2015 Jan;72(1):73-76.
- doi: 10.3348/jksr.2015.72.1.73
Jarcho-Levin syndrome (JLS) is a rare congenital dysostosis characterized by multiple vertebral and costal anomalies. The combination of JLS and neural tube defect is rare. Only six cases of JLS... -
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- A Case of Acrodysostosis
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Lee SH, Oh CW, Kim KS, Kim KB
- KMID: 2208380
- J Korean Pediatr Soc.
- 1995 Jan;38(1):133-137.
Acrodysostosis is a rare multiple congenital malformation syndrome with peripheral dysostosis, nasal hypoplasia, mental retardation and growth failure. In 1968, Maroteaux and Malamut first described this disorder in three patients,... -
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- Metaphyseal Chondrodysplasia, Schmid Type: A Case Report
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Lee SH, Rha JD, Min KD, Yoon SI, Yang JS
- KMID: 2445327
- J Korean Orthop Assoc.
- 1989 Jun;24(3):982-987.
- doi: 10.4055/jkoa.1989.24.3.982
Metaphyseal Chondrodysplasia is rare, hereditary disease characterized by defective enchondral bone formation with major manifestation at the metaphysis. Jansen originally used the term metaphyseal dysostosis in 1934 to describe a... -
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- A Galactosialidosis Mimicking GM1-gangliosidosis Type I
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Im SJ, Nam SO
- KMID: 2329332
- J Korean Child Neurol Soc.
- 2005 Nov;13(2):288-293.
Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase and alpha-neuraminidase, secondary to a defect of another lysosomal protective protein. It is a neurodegenerative disorder clinically... -
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- Correction of Frontal Bone Defect in Cleidocranial Dysostosis with Porous Polyethylene(Medpor(R)): A Case Report
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Moh JS, Na YC
- KMID: 2120397
- J Korean Soc Plast Reconstr Surg.
- 2009 Jul;36(4):481-484.
PURPOSE: Cleidocranial dysostosis is a rare hereditary disorder affecting bones that develop by intramembranous formation. The typical features include excessive growth of transverse diameter of the skull, hypoplastic clavicles, low... -
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- Joubert syndrome with peripheral dysostosis: A case report of long term follow-up
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Kim JT, Kim SJ, Joo CU, Cho SC, Lee DY
- KMID: 2279255
- Korean J Pediatr.
- 2007 Mar;50(3):315-318.
- doi: 10.3345/kjp.2007.50.3.315
This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements,... -
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- A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child
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Lee JH, Bae SH, Yu JJ, Lee R, Yun YM, Song EY
- KMID: 1786862
- J Korean Med Sci.
- 2008 Feb;23(1):142-145.
- doi: 10.3346/jkms.2008.23.1.142
Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although... -
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- Orbital dystopia: assessing surgical outcome
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Han KH, Kim JH, Sohn DG
- KMID: 2119377
- J Korean Soc Plast Reconstr Surg.
- 1998 Apr;25(3):419-429.
The management of orbital dystopia has ranged from camouflage procedure for minor deformity to vertical translocation of the displaced orbit for severe deformity. The purpose of this study is to... -
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- A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
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Heo JS, Choi KY, Sohn SH, Kim C, Kim YJ, Shin SH, Lee JM, Lee J, Sohn JA, Lim BC, Lee JA, Choi CW, Kim EK, Kim HS, Kim BI, Choi JH
- KMID: 1781706
- Korean J Pediatr.
- 2012 Nov;55(11):438-444.
- doi: 10.3345/kjp.2012.55.11.438
Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between... -
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