- A Case of Tracheobronchopathia Osteochondroplastica Associated with Atrophic Rhinitis
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Park TJ, Han JU, Kim DH, Kim BY
- KMID: 2277276
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2011 Nov;54(11):791-793.
- doi: 10.3342/kjorl-hns.2011.54.11.791
Tracheobronchopathia osteochondroplastica (TO) is a rare benign disease of trachea characterized by numerous osseocartilaginous nodules protruding into the tracheobronchial lumen. The etiology of TO is unknown; however, an association with... -
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- A case of osteopetrosis
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Lee S, Park CK, Kim BS
- KMID: 2424917
- J Korean Radiol Soc.
- 1972 Mar;8(1):64-68.
- doi: 10.3348/jkrs.1972.8.1.64
A case of osteopetrosis is reported. The Patient is 29 years old male with complaints of slight visualdistrubance and medial deviation of the right eye since childhood. The blood examination... -
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- Coxa Vara with Spondylometaphyseal Dysplasia
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Kim TS, Kim SH, Chung KS
- KMID: 2185471
- J Korean Orthop Assoc.
- 2011 Jun;46(3):268-272.
- doi: 10.4055/jkoa.2011.46.3.268
Developmental coxa vara is a rare disease and the symptoms do not appear at birth, but rather, they appear at the age of walking. Clinically, the symptoms include a waddling... -
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- Multiple epiphyseal dysplasia in one family
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Kang JD, Kim KY, Lee YH, Park JB
- KMID: 1688792
- J Korean Orthop Assoc.
- 1991 Feb;26(1):304-309.
No abstract available. -
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- A case of enchondromatosis (Ollier's disease)
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Lee CS, Kim BS, Lee S
- KMID: 2346002
- J Korean Radiol Soc.
- 1971 Dec;7(1):93-96.
- doi: 10.3348/jkrs.1971.7.1.93
A case of enchondromatosis confirmed by the X-ray and microscpic findings, was reported, who was 25 year-oldman with the complaints of the globular mass deformities of both hands and the... -
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- A Case of Tracheobronchopathia Osteochondroplastica
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Cho SW, Jung KH, Kim RY, Lee JK
- KMID: 2277245
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2011 Jun;54(6):408-410.
- doi: 10.3342/kjorl-hns.2011.54.6.408
Tracheobronchopathia Osteochondroplastica (TO) is a rare disease of the trachea characterized by the development of submucosal cartilaginous and bony nodules. The nodules are usually located at the anterior and lateral... -
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- Successful general anesthesia for cervical spine fusion in a patient with spondyloepiphyseal dysplasia congenita: A case report
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Park S, Kang SH, Joo SY, Cho EJ, Nam J
- KMID: 1741924
- Anesth Pain Med.
- 2011 Jul;6(3):294-297.
Spondyloepiphyseal dysplasia congenita (SEDC) is a kind of skeletal dysplasia, inheritable condition. The clinical features of SEDC are dwarfism, myopia with or without retinal detachment, coxa vara, thoracic dysplasia with... -
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- Bronchopathia Osteochodroplastica Mimicking Lung Malignancy
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Oh IJ, Choi YD, Choi S, Kim SJ, Kim KS, Song SY
- KMID: 2063094
- Korean J Thorac Cardiovasc Surg.
- 2010 Dec;43(6):800-803.
Tracheobronchopathia osteochondroplastica (TO) is an uncommon benign disease of an unknown etiology and it affects the cartilaginous walls of large airways. Most cases of TO have been reported to involve... -
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- A Newborn with Lethal Metatropic Dysplasia
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Cho HJ, Hwang ST, Lee SS, Kim JE, Jo AR, Shim SY, Jeon IS, Son DW
- KMID: 2144480
- J Korean Soc Neonatol.
- 2010 May;17(1):141-146.
Metatropic dysplasia is a rare spondylo epi metaphyseal dysplasia characterized by progressive kyphoscoliosis, short limbs with relatively large hands and feet and limited of motion and enlargement of the large... -
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- Radiological evaluation of familial osteopetrosis
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Moon MC, Kang SW, Rhee SJ, Won JJ, Choi KC
- KMID: 2345375
- J Korean Radiol Soc.
- 1980 Dec;16(2):626-637.
- doi: 10.3348/jkrs.1980.16.2.626
Authors found 16 patients with benign osteopetrosis out of 62 members of 4 families and anlaysed thesepatients clinically, radiologically, hematologically and biochemically at the Department of Radiology, JeonbugNational University Hospital... -
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- Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
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Cho TJ, Kim OH, Lee HR, Shin SJ, Yoo WJ, Park WY, Park SS, Cho SI, Choi IH
- KMID: 1792968
- J Korean Med Sci.
- 2010 Jul;25(7):1105-1108.
- doi: 10.3346/jkms.2010.25.7.1105
Multiple epiphyseal dysplasia is caused by heterogenous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors... -
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- Ellis-van Creveld syndrome in an Indian child: a case report
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Veena KM, Jagadishchandra H, Rao PK, Chatra L
- KMID: 2167402
- Imaging Sci Dent.
- 2011 Dec;41(4):167-170.
- doi: 10.5624/isd.2011.41.4.167
Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000... -
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- A Case of Tracheobronchopathia Osteochondroplastica Diagnosed by Endobronchial Ultrasonography
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Lee CW, Oak CH, Jung MH, Jang TW, Lim SK, Cho EJ, Lee SJ, Lee HW, Gwoo SG, Chun BK
- KMID: 1993601
- Kosin Med J.
- 2011 Dec;26(2):197-201.
Tracheobronchopathia osteochondroplastica (TO) is a rare benign disease of unknown etiology characterized by accumulation of calcium phosphate in the submucosa of large airways and benign proliferation of bone and cartilage... -
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- Maffucci's Sundrome ( Dyschondroplasia with Hemangiomata )
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Kim YP, Ihm CW
- KMID: 2085455
- Korean J Dermatol.
- 1974 Mar;12(1):27-32.
A case of Maffucci's syndrome, which was considered to be a first case reported in Korean literature, was presented with review of literatures. The patient, 17 years old Korean girl,... -
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- Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation
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Kang SS, Shin SH, Auh CK, Chun J
- KMID: 1402315
- Exp Mol Med.
- 2012 Dec;44(12):707-722.
The transient receptor potential vanilloid 4 (TRPV4) cation channel, a member of the TRP vanilloid subfamily, is expressed in a broad range of tissues where it participates in the generation... -
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- Radiologic findings of epiphyseal metaphyseal dysplasia developed in one family
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Lim DR, Shin HJ
- KMID: 2345411
- J Korean Radiol Soc.
- 1980 Jun;16(1):200-204.
- doi: 10.3348/jkrs.1980.16.1.200
The spondyloepiphseal dysplasia are chondrodystrohpies with selective and combine invovlement of vertebrae andlong bone epiphyses and metaphses. It is rare familial disease and transmitted autosomal dominant except X-linkedrecessive in SED... -
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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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- Maffucci's Syndrome Complicated by an Intracranial Chondroma
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Chung BS, Lee KS, Doh JO, Lee KC
- KMID: 2068146
- J Korean Neurosurg Soc.
- 1983 Dec;12(4):703-708.
Maffuci's syndrome is characterized by defects in cartilage bone formation (dyschondroplasia) with subcutaneous multiple vascular hemangiomas, and often with enchondromas. More than 120 cases of this syndrome, which was first... -
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- Correlation between Karyotype and Phenotype in Turner Syndrome
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Shim YJ, Hwang YJ, Lee KS
- KMID: 2244893
- J Genet Med.
- 2009 Jun;6(1):67-73.
PURPOSE: In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical... -
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- Eight cases of incidentally diagnosed as subclinical rickets
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Seo JY, Kim C, Lee HW, Ahn YM
- KMID: 2127986
- Korean J Pediatr.
- 2008 Aug;51(8):812-819.
- doi: 10.3345/kjp.2008.51.8.812
PURPOSE: Vitamin D plays a key role in bone mineralization of the skeleton and vitamin D deficiency can lead to rickets. It is well known that vitamin D deficiency is... -
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