1.A Case of Congenital Ptosis.
Moon Cheon HAH ; Seung Ho HONG
Journal of the Korean Ophthalmological Society 1973;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 eyes, and right esotropia. And typically eyeballs turned media-inferiorly when lids forcibly closed (inverted Bell's phenomenon).
Blepharophimosis
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Esotropia
;
Heredity
;
Ophthalmoplegia
2.Congenital Blepharoptosis.
Yong Bock HAN ; Jong Moon PARK
Journal of the Korean Ophthalmological Society 1986;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 for three generations and treated them with frontalis sling operation with silicone 40 strip.
Blepharoptosis*
;
Family Characteristics
;
Heredity
;
Humans
;
Parturition
;
Silicones
3.Congenital Muscular Torticollis in Siblings: A case report and literature review.
Kye Hee CHO ; Jae Young KIM ; Il Yung LEE ; Shin Young YIM
Journal of the Korean Academy of Rehabilitation Medicine 2009;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, to our knowledge. Four cases with CMT found in siblings are presented in this paper along with the review of literature on hereditary factor as one of the possible mechanisms on pathogenesis of CMT. Further case reports are required in order to verify heredity as a possible pathogenetic factor of CMT.
Head
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Heredity
;
Humans
;
Neck
;
Posture
;
Siblings
;
Torticollis
4.Familial Congenital Muscular Torticollis: A Case Report
The Journal of the Korean Orthopaedic Association 1986;21(5):955-958
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 and have congenital muscular torticollis. They are sisters. No environmental factor could be identified that would predispose the the children to congenital muscular torticollis. In this family, it is apparent that genetic factors are influencing the development of this condition. The cause of congenital muscular torticollis is unknown, but heredity may play a more important role than has previously been supected.
Child
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Female
;
Heredity
;
Humans
;
Siblings
;
Torticollis
5.Retinitis Punctata Albescens.
Journal of the Korean Ophthalmological Society 1976;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 has been reported for tbe first time in Korea, and is probably a progressive type for its clinical signs and symptoms. The other case is stationary type of albipunctate dystrophy and is inherited in usual recessive form of heredity. In both cases, there were fundus changes characterized by a powdering with white discrete dots beneath the retinal vessels, raised threshold in dark adaptation and other typical signs.
Dark Adaptation
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Family Characteristics
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Heredity
;
Korea
;
Retinal Vessels
;
Retinitis*
6.Using genetic markers in unpedigreed populations to detect a heritable trait.
Ken G DODDS ; Peter R AMER ; Benoît AUVRAY
Journal of Zhejiang University. Science. B 2007;8(11):782-786
Before a breeder invests selection pressure on a trait of interest, it needs to be established whether that trait is actually heritable. Some traits may not have been measured widely in pedigreed populations, for example, a disease or deformity may become more prevalent than previously, but is still relatively rare. One approach to detect inheritance would be to screen a commercial population to obtain a sample of "affecteds" (the test group) and to also obtain a random control group. These individuals are then genotyped with a set of genetic markers and the relationships between individuals within each group estimated. If the relatedness is higher in the test group than in the control group, this provides initial evidence for the trait being heritable. A power simulation shows that this approach is feasible with moderate resources.
Animals
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Breeding
;
Gene Frequency
;
Genetic Markers
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Heredity
;
genetics
;
Pedigree
7.A Case of Lichen Spinulosus.
Chi Yeon KIM ; Sang Young PARK ; Chee Won OH
Korean Journal of Dermatology 2008;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 consist of a hairlike horny spine. Lesions are typically skin colored and asymptomatic or mildly pruritic. It occurs mainly in children and adolescents. Although several factors, such as atopy, infection, drug reaction, id reaction to fungal infection, and heredity, have been proposed as playing a role in lichen spinulosus, most cases are not associated with any systemic abnormalities. Lichen spinulosus is usually a symmetrical lesion that occurs on the trunk or extremities. Herein, we report a case of lichen spinulosus in a 7-year-old child in the submental area, an uncommon site.
Adolescent
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Child
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Extremities
;
Heredity
;
Humans
;
Lichens
;
Skin
;
Spine
8.A study on the inheritance of malocclusion between the mother and offspring.
Korean Journal of Orthodontics 1984;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 was taken of the both jaws of 73 mothers and their sons and 109 mothers and their daughters, and the measurement was obtained from the models. The correlation coefficient of the mesio-distal diameters of teeth and that of occlusion and arch variable was calculated from the mesurement. After the data was analyzed and estimated, the following results were obtained: 1. It was evident that the tooth size of the offspring was influenced from their mother. 2. It was evident that the occlusion, the arch size and shape of the offspring were influenced from their mother. 3. There was not the marked difference between the heredity of occlusion variable and arch variable on the mother-offspring relationship. 4. The correlation of the lower intercanine width and the lower available space discrepancy between the mother and the offspring were greatly influenced with the environmental factor.
Heredity
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Humans
;
Jaw
;
Malocclusion*
;
Mothers*
;
Nuclear Family
;
Tooth
;
Wills*
9.Concern about liver disease in children.
Abuduxikuer KUERBANJIANG ; J S WANG
Chinese Journal of Hepatology 2021;29(1):5-8
With the economic development and living standards improvement, various chronic viral liver diseases in children is decreasing year by year, and the liver diseases related to heredity, environment and living habits is increasing. Although liver disease in children is relatively rare and is not the main cause of childhood mortality, chronic liver disease cannot be ignored for its effect on children's growth and development, mental health, quality of life and the economic burden to family or society. Therefore, more attention should be paid to the early screening, diagnosis and treatment of pediatric liver diseases, in order to delay or prevent its progression efficiently.
Child
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Disease Progression
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Heredity
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Humans
;
Liver Diseases/epidemiology*
;
Quality of Life
10.A Survey on Menarche of School Girls in Seoul and Taeru Area.
Korean Journal of Preventive Medicine 1976;9(1):153-158
It is clearly defined through a number of authoritative studies that the age of menarche influenced by the various combined factors such as nutrition status, physical status, physical growth and development status, socio-economic status, locality, culture, education level, climate, rece heredity etc. In order to obtain statistical data regarding the menarche of Korean school girls, anthors investigated on 4207 middle school girls and 703 woman college students in Seoul and Taegu during the period of September 10 to 30, 1973 and the result are summarized as followings; 1. The rates of menses experience by years were 18.2% in the age group of 12 years girls, 31.9% in 13 years, 64.6% in 14 years, 89.8% in 15 years, 98.1% in 16 years respectively. 2. The average age of menarche for the 2504 school girls who were born during the year of 1957-1961 is 13.4 years with the rang of 9 years to 16 years. And the most frequent age of menarche is 13 years. 3. The average age of menarche for the 703 woman college students who were born during the year of 1950-1954 is 14.3 years with the rang of 9 years to 18 years. And the most frequent age of menarche is 13 years. 4. The apparence of menarche is most common in August (20.7%) for the group who were born during the year of 1957-1961 and most rear in November (4.2%). And it is also most common in August (19.9%) for the group who were born puring the year of 1950-1954 but most rear in June (3.4%).
Climate
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Daegu
;
Education
;
Female
;
Female*
;
Growth and Development
;
Heredity
;
Humans
;
Menarche*
;
Nutritional Status
;
Seoul*