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Familial Congenital Muscular Torticollis: A Case Report

Hwang SK, Lee KI

Hereditary theory was first proposed by Joachimsthal in 1905. However, a family history of congenital muscular torticollis is uncommon. This is a report of two female children who are interrelated...
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Retinitis Punctata Albescens

Kim YK

  • KMID: 1948439
  • J Korean Ophthalmol Soc.
  • 1976 Sep;17(3):347-351.
Two cases of Retinitis Punctata Albescens are presented. One case occurred in two successive generations without a history of consanguity and is suspected strongly a dominant form of heredity which...
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A Case of Congenital Ptosis

Hah MC, Hong SH

  • KMID: 1902519
  • J Korean Ophthalmol Soc.
  • 1973 Mar;14(1):31-34.
A case of bilateral congenital ptosis with strong heredity. studied and treated at eye clinic in S.R.C.H. is reported. The ptosis was associated with external ophthalmoplegia and blepharophimosis in both...
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Congenital Blepharoptosis

Han YB, Park JM

  • KMID: 2204789
  • J Korean Ophthalmol Soc.
  • 1986 Aug;27(4):639-643.
Congenital blepharoptosis is commonly unilateral with strong autosomal dominant heredity tendency and is present at birth or after birth. The authors experienced two patients with congenital blepharoptosis with hereditary tendency...
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A Case of Congenital Coloboma of Iris, Choroid and Optic Nerve In Both Eyes

Hong SH

  • KMID: 1675932
  • J Korean Ophthalmol Soc.
  • 1966 May;7(1):27-30.
A case of congenital coloboma of Iris and Choroid in both eyes and associated with optic nurve in left eye, who was 36 years old labor man, is reported, and...
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A Case of Congenital Coloboma of Optic Nerve Head

Lee CY, Kim JH, Shin HH

  • KMID: 2204734
  • J Korean Ophthalmol Soc.
  • 1982 Sep;23(3):853-856.
A case of congenital coloboma of the optic nerve head with surrounding choroidal atrophy in left eye, who was 16 years old male, is reported. The most characteristic features of...
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Inflammation in Obesity

Park M, Woo SY

Obesity that caused by high-fat diet, heredity, drinking, or lack of exercise is related to metabolic syndrome, insulin resistance, type 2 diabetes and cardiovascular disease and it becomes a serious...
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Congenital Muscular Torticollis in Siblings: A case report and literature review

Cho KH, Kim JY, Lee IY, Yim SY

  • KMID: 1471642
  • J Korean Acad Rehabil Med.
  • 2009 Dec;33(6):731-734.
Congenital muscular torticollis (CMT) is the most common cause of abnormal posture of the head and neck in infancy. Familial transmission of CMT has not been reported in Korean literature,...
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Multiple Trichoepithelioma Occurring in a Son and his Mother

Kim JG, Kwon KS, Chung TA

  • KMID: 2231603
  • Korean J Dermatol.
  • 1986 Jun;24(3):416-419.
A 23-year-old man had multiple small, skin-colored firm papules on the both sides of the nasolabial folds since the age of approximately 17. His mother had a similar skin lesions...
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A Case Report of Peutz - Jeghers' Syndrome Associated Anemia and Intussusception

Lee YG, Kim CH, Choi SW, Moon HS, Jeong JW, Park DH, Kim BS, Seo EJ

  • KMID: 2143714
  • Korean J Gastrointest Endosc.
  • 1989 May;9(1):43-47.
The Peutz-Jeghers syndrome has three cardinal features: gastrointestinal polypasis, mucocutaneous piginentation and autosomal dominant heredity. This syndrome is ciinically important because of the complication caused by the gastrointestinal ployp, leading...
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A study on the inheritance of malocclusion between the mother and offspring

Son TW

  • KMID: 1676071
  • Korean J Orthod.
  • 1984 Mar;14(1):127-134.
This purpose of the present study was to inestigate the correlations of malocclusion between the mother and the offression and thus heritable features from mother to her offspring. Dental impression...
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Clinical Survey of 10 Cases of Leber's Optic atrephy Among 3 Families

Kim SM, Yoo JH

  • KMID: 1948631
  • J Korean Ophthalmol Soc.
  • 1965 May;6(1):29-34.
Since it had not been possible to find any formal report on this disease in Korea, we had chance to examine and to make accurate diagnosis, so that we would...
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Duchenne Type Muscular Dystrophy: Report of 8 Cases

Hwang BY

Clinical review has been made for 8 cases of Duchenne muscular dystrophy admitted to orthopedic Department during the time between 1964 and 1969. Duchenne type muscular dystrophy, (Duchenne, 1849), is...
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A Case of Hyperhomocysteinemia Manifested by Deep Vein Thrombosis and Pulmonary Embolism

Lee SH, Choi SH, Lee JH, Seon KY, Joo SB

Homocysteine has been reported as an independent risk factor of intravascular thrombosis and atherosclerosis by its participation in vascular endothelial cell dysfunction, platelet activation and thrombus formation. The serum homocysteine...
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A Case of Lichen Spinulosus

Kim CY, Park SY, Oh CW

  • KMID: 2302084
  • Korean J Dermatol.
  • 2008 Mar;46(3):378-380.
Lichen spinulosus is an uncommon idiopathic disorder characterized by scattered 2 cm to 6 cm patches of keratotic follicular papules. Individual papules are 1 to 3 mm in diameter and...
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Dyschromatosis Symmetrica Hereditaria ( Toyama ): Affecting in three Generation and Review of Literatures

Chun IK, Kim YP

  • KMID: 1663951
  • Korean J Dermatol.
  • 1970 Jan;8(1):41-45.
Dyschromatosis Symmetrica Hereditaria (Toyama) is one of the pigment anormaly hereditary skin disease which is known to manifest the Japanese. Various authors such as Toyama, Matsumoto, Komaya-Dohi and Ichikawa-Hiraga have...
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Osteogenesis Imperfecta in Pregnancy: A Case Report

Chang HJ, Kim HS, Yang JI, Ryu HS, Oh KS

  • KMID: 2272203
  • Korean J Obstet Gynecol.
  • 2003 Nov;46(11):2276-2282.
Osteogenesis imperfecta (OI) is an inherited disease of connective tissue disorder which represents a phenotypically heterogeneous group of conditions that results from a number of genetic defects in the synthesis...
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A Study on Cell Mekiated Immunity in Parients with Psoriasis

Ahn KJ, Kim WS

  • KMID: 1678271
  • Korean J Dermatol.
  • 1981 Aug;19(4):397-403.
Psoriasis is common cutaneous disorder involving 0.1~3% Of the general population and is characterized by its marked chronicity and recurrence. A variety of factors, rarging from heredity, environment to abnormal...
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Clinical assessment of hypertension in children

Patel N, Walker N

The use of blood pressure measurements have become a routine part of physical exam for the evacuation of cardiovascular health adults and, more recently, children. The most widely used definition...
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Alpha-Synuclein Function and Dysfunction on Cellular Membranes

Snead D, Eliezer D

Alpha-synuclein is a small neuronal protein that is closely associated with the etiology of Parkinson's disease. Mutations in and alterations in expression levels of alpha-synuclein cause autosomal dominant early onset...
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