1.A Case of Metatropic Dwarfism.
Eun Ok RHEE ; Nam Joo HWANG ; Yaung Sook CHOI ; Son Sang SEO ; Hye Kyoung YOON
Journal of the Korean Pediatric Society 1989;32(8):1167-1173
No abstract available.
Dwarfism*
2.Hypochondroplasia: Report of A Case
Sang Lim KIM ; Keun Woo KIM ; Han Suk KO ; Suk Kee TAE ; Jong Taek OH
The Journal of the Korean Orthopaedic Association 1987;22(6):1379-1386
Hypochondroplasia is a form of short
Achondroplasia
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Christianity
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Dwarfism
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Extremities
;
Hand
3.Spondylometaphyseal Dyslpasia.
Kyo Sun KIM ; Baik Keun LIM ; Duk Hee KIM ; Byung Ill LEE ; Dae Young HAN ; Ki Keun OH
Journal of the Korean Pediatric Society 1980;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 be included within the group of Spondylomephyseal dysplasia. In contract to the familial cases described up to now in which the mode of inheritance was autosomal dominant, the trait in the three children described here was transmitted as autosomal recessive.
Child
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Dwarfism
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Humans
;
Intelligence
;
Skull
;
Wills
4.A Case of X-linked Agammaglobulinemia with Delayed Growth.
Mi Jin KIM ; Ho Young KIM ; Mi Deok LEE ; Hong Seung KIM ; Young Goo SHIN ; Choon Hee CHUNG ; Kye Chul SHIN
Journal of Korean Society of Endocrinology 1999;14(1):153-159
In 1980, the clinical syndrome of X-linked agammaglobulinemia and isolated growth hormone defieiency (XLA/IGHD) was first described by Fleisher. We report here 25-year old man with isolated growth hormone deficiency and X-linked agammaglobulinemia. His height was below the third percentile. He had recurrent sinopulmonary infection, lacked circulating B lympocytes and had deficient growth hormone.
Adult
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Agammaglobulinemia*
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Dwarfism, Pituitary
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Growth Hormone
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Humans
5.Dysplasia Epiphyseal Multiple: A Case
Jung Dae OH ; Joo Choul IHIN ; Ik Dong KIM
The Journal of the Korean Orthopaedic Association 1972;7(1):151-154
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 error of unknown etiology, characterized by changes in the developing epiphyses, dwarfism and stubby digits in children of normal intelligence. Diagnosis is mainly by roentgenographic apperences of the epiphyses before fusion to the shaft. The centers of ossification of the epiphyses are late in appearing, slow in developing, deformed in shape and irregular in density. The spine is never affected, blood and biochemicaI studies show no abnormality. A case of dysplasia epiphysealis multiplex which revealed typical roentgenographic pictures is presented with a brief review of a literature.
Child
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Diagnosis
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Dwarfism
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Epiphyses
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Humans
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Intelligence
;
Spine
6.A Case of Spondylometaphyseal Dysplasia ( Kozlowski type ).
Seok Hyun LEE ; Seung Woo SUH ; Kyung Wook RHA ; Hyun Il JUNG ; Jeong Hyeon JO
The Journal of the Korean Orthopaedic Association 1997;32(3):768-772
Spondylometaphyseal dysplasia (SMD) is an extremely rare, which affects the spine and metaphy-ses of the tubular bones on terms of enchondrogenesis. Children who had Kozlowski dwarfism, type of SMD are not recognized until they reach school age since they have normal clinical feature, weight and size in early childhood. Authors experienced a typical case of Kozlowski type of SMD in a 10 years old male who had i) generalized platyspondyly with anterior tapering of vertebrae ii) generalized metaphyseal dysplasia iii) minimal changes in the carpal and tarsal bones. This case is to be reported with review of references.
Child
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Dwarfism
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Humans
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Male
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Spine
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Tarsal Bones
7.Two Cases of Seckel Syndrome.
Kyu Chang PARK ; Phil Soo OH ; Jeh Hoon SHIN
Journal of Korean Society of Pediatric Endocrinology 1998;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 syndrome who had characteristic symptoms of intrauterine growth retardation, small head, large eyes, sharp facial features (beaked nose, dysplastic ears and narrow face) with underdeveloped chin, dwarfism, severe mental retardation, and other malformation. We report two cases of Seckel syndrome with a brief review of related literatures.
Chin
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Dwarfism
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Ear
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Fetal Growth Retardation
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Head
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Intellectual Disability
;
Nose
8.A Case of Hallermann-Streiff Syndrome.
Journal of the Korean Ophthalmological Society 1976;17(3):297-301
Twenty years old Korean male patient with Hallermann-Streiff syndrome who developed glaucoma is reported. The clinical features are dyscephalia with mandibulo-oculo-facial malformation, bilateral congenital cataract, dental anomalies, hypotrichosis, microphthalmia, nanism and the secondary complications. A brief review of literature is described.
Cataract
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Dwarfism
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Glaucoma
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Hallermann's Syndrome*
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Humans
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Hypotrichosis
;
Male
;
Microphthalmos
9.Metatropic dwarfism in a case.
Ji HUANG ; Li-fu GUAN ; Hui-ping SHI ; Wei YU
Chinese Journal of Pediatrics 2003;41(4):310-310
10.Research on X-linked growth hormone deficiency and related genes.
Chinese Journal of Medical Genetics 2013;30(1):67-69
Growth hormone deficiency (GHD) is a common cause of dwarfism. Most GHD patients are sporadic, whilst 5%-30% are of familial type. X-linked GHD patients are relatively rare. We hereby provide a literature review and report on our latest findings of the disease.
Dwarfism, Pituitary
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diagnosis
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genetics
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Genetic Association Studies
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Humans