- A Case of Metatropic Dwarfism
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Rhee EO, Hwang NJ, Choi YS, Seo SS, Yoon HK
- KMID: 1682921
- J Korean Pediatr Soc.
- 1989 Aug;32(8):1167-1173.
No abstract available. -
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- A Case of Thanatophoric Dwarfism
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Lee CS, Jang BG, Lee JH, Rho MS, Song IC
- KMID: 2260836
- Korean J Obstet Gynecol.
- 1997 Jun;40(6):1281-1285.
Thanatophoric dwarfism is the term applied to a distinctive, lethal form of bone dysplasiadescribed by Maroteaux, Lamy and Robert in 1967.It is a severe neonatal short-limbs dwarfism with characteristic X-ray... -
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- Hypochondroplasia: Report of A Case
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Kim SL, Kim KW, Ko HS, Tae SK, Oh JT
- KMID: 2445564
- J Korean Orthop Assoc.
- 1987 Dec;22(6):1379-1386.
- doi: 10.4055/jkoa.1987.22.6.1379
Hypochondroplasia is a form of short - limbed dwarfism that resembles achondroplasia in mild degree. However, the faces and the hands have normal configuration and the stigmata are'generally milder. It... -
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- Pituitary Stalk Transection Syndrome
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Cho YH, Shin JH
- KMID: 2461639
- J Korean Soc Endocrinol.
- 1996 Sep;11(3):324-329.
We experienced one case of severe pituitary dwarfism in a 16 years old male boy that magnetic resonance image(MRI) revealed transection of the pituitary stalk with the ectopic location of... -
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- Anesthetic experience of a pediatric patient with Seckel syndrome associated with pneumonia : A case report
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Kim TH, Kim YU, Song JG, Hwang JH
- KMID: 2092209
- Korean J Anesthesiol.
- 2009 Jun;56(6):717-719.
- doi: 10.4097/kjae.2009.56.6.717
Seckel syndrome, also called bird-headed dwarfism, is an extremely rare, inherited, autosomal recessive disorder. The patients with Seckel syndrome are characterized by growth retardation, microcephaly with mental retardation, proportional dwarfism,... -
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- Lethal neonatal short-limbed dwarfism
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Kim OH, Yim CI, Bahk YW
- KMID: 2462379
- J Korean Radiol Soc.
- 1986 Feb;22(1):151-159.
- doi: 10.3348/jkrs.1986.22.1.151
We have detailed our experiences on 6 cases of neonatal lethal short- limbed dwarfism and reviewed thearticles. They include, achondrogenesis, thanatophoric dysplasia, asphsiating thoracic dysplasia, osteogenesisimperfecta congenita, and hypophosphatasia lethalis.... -
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- An anesthetic experience in a patient with Seckel syndrome: A case report
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Choi JB, Kang SY, Kil HK
- KMID: 2299319
- Korean J Anesthesiol.
- 2009 Feb;56(2):204-207.
- doi: 10.4097/kjae.2009.56.2.204
Seckel syndrome is an autosomal recessive, primordial dwarfism. The clinical symptoms and signs include severe intrauterine and postnatal growth retardation, nanocephaly, proportional dwarfism, bird-like faces, beak-like triangular nose, and mental... -
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- Two Cases of Seckel Syndrome
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Park KC, Oh PS, Shin JH
- KMID: 2193879
- J Korean Soc Pediatr Endocrinol.
- 1998 Nov;3(2):228-230.
Seckel syndrome is a rare, autosomal recessive disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. We report hereby the first two Korean cases of typical Seckel... -
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- Lower Limb Lengthening in Turner Dwarfism
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Hahn SB, Kim JY, Park HW, Kim HW
- KMID: 2138627
- J Korean Orthop Assoc.
- 2004 Apr;39(2):192-197.
PURPOSE: The aim of this study was to review our cases of lower limb lengthening to treat Turner dwarfism, and to speculate whether or not effective limb lengthening can be... -
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- A case of Kniest syndrome
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Yoo YJ, Na KC, Moon KR, Park SK, Park YB, Kee KH
- KMID: 1690712
- J Korean Pediatr Soc.
- 1993 Jan;36(1):138-143.
The Kniest syndrome is characterized by disproportionate dwarfism and Kyphoscoliosis which may be associated with flat facies with prominent eyes, cleft palate, hearing loss, myopia and limited joint motion. The... -
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- A Case of Hurler's Syndrome
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Roh YW, Ok IY
- KMID: 2471508
- J Korean Orthop Assoc.
- 1974 Jun;9(2):235-238.
- doi: 10.4055/jkoa.1974.9.2.235
A 14 months old boy with Hurler's syndrome, manifesting developmental retardation, grotesque facial appearance, dwarfism. kyphosis and hepatosplenomegaly are presented. Roentgenographic examination of the spine showed kyphosis at the upper... -
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- A Case of Severe Pituitary Dwarfism due to Agenesis of Anterior Pituitary Gland with Pituitary Stalk Transection
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Yoo MJ, Han DK, Shin JH, Seul IJ, Lee SR
- KMID: 2335133
- J Korean Pediatr Soc.
- 1994 Sep;37(9):1305-1311.
We experienced one case of severe pituitary dwarfism in a 10 years old female girl. Magnetic resonance image (MRI) revealed transection of the pituitary stalk stalk with the formation of... -
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- Spondylometaphyseal Dyslpasia
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Kim KS, Lim BK, Kim DH, Lee BI, Han DY, Oh KK
- KMID: 2103972
- J Korean Pediatr Soc.
- 1980 Sep;23(9):748-752.
There sibs with identical features of short-limbed dwarfism, a normal skull and face and normal intelligence are described. On the basis of the radiological and clinical characteristics, the condition must... -
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- Morquio's Syndrome: A Case Report
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Choi KS, Choung ES, Yang CR
- KMID: 2445427
- J Korean Orthop Assoc.
- 1989 Oct;24(5):1507-1511.
- doi: 10.4055/jkoa.1989.24.5.1507
Morquio's syndrome is a very rare disease, which is characterized by dwarfism, flattening of the vertebral body, marked spinal kyphosis, widespread affection of the epiphyses and normal intelligence. The authors... -
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- A case of Hallermann-Streiff syndrome with aphakia
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Lee MC, Choi IJ, Jung JW
- KMID: 2280302
- Korean J Pediatr.
- 2008 Jun;51(6):646-649.
- doi: 10.3345/kjp.2008.51.6.646
Hallermann-Streiff syndrome is a rare disease. Approximately 150 cases have been reported, including 6 cases in Korea. The authors experienced a case of Hallermann-Streiff syndrome in a 6-year-old female with... -
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- Dysplasia Epiphyseal Multiple: A Case
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Oh JD, Ihin JC, Kim ID
- KMID: 2463860
- J Korean Orthop Assoc.
- 1972 Mar;7(1):151-154.
- doi: 10.4055/jkoa.1972.7.1.151
Dysplasia epiphysealis multiplex is a rare syndrome, first discribed by Fairbank in 1935, but numerous publications have made it a well-recognized entity. The syndrome is caused by a congenital developmental... -
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- Clinical Analysis of Short Stature
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Kim KH, Kim HY, Kim DH, Yun DJ
- KMID: 2103965
- J Korean Pediatr Soc.
- 1980 Sep;23(9):702-709.
Adequate growth is the most importment and principal factor in the fields of pediatrics and also it is great concern to all parents. There are many causes of short stature,... -
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- Morphological Analysis of 6 Cases of Achondroplasia
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Kim JY, Chung YK, Jyu DS, Rhee SK, Kim YJ
- KMID: 2471488
- J Korean Orthop Assoc.
- 1974 Sep;9(3):315-320.
- doi: 10.4055/jkoa.1974.9.3.315
Achondroplasia, one of the most common form of dwarfism, among the Morquio's disease, cretinism, rickets, diastrophic dwarfism and mongolism, is a skeletal inborn error in which the subjects characteristically presents;... -
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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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- A diagnosis of hypochondroplasia by next generation sequencing
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Ahn SM, Kim YH, Baek JW, Bae EJ, Lee HJ
- KMID: 2327703
- J Genet Med.
- 2016 Jun;13(1):46-50.
- doi: 10.5734/JGM.2016.13.1.46
Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with... -
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