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 ; Esotropia ; Heredity ; Ophthalmoplegia

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

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 ; Female ; Heredity ; Humans ; Siblings ; Torticollis

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 ; Heredity ; Humans ; Neck ; Posture ; Siblings ; Torticollis

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 ; Family Characteristics ; Heredity ; Korea ; Retinal Vessels ; Retinitis*

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 ; Child ; Extremities ; Heredity ; Humans ; Lichens ; Skin ; Spine

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 ; Breeding ; Gene Frequency ; Genetic Markers ; Heredity ; genetics ; Pedigree

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 ; Disease Progression ; Heredity ; Humans ; Liver Diseases/epidemiology* ; Quality of Life

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 ; Humans ; Jaw ; Malocclusion* ; Mothers* ; Nuclear Family ; Tooth ; Wills*

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 heredity forms of Parkinson's disease, and sporadic Parkinson's disease is defined in part by the presence of Lewy bodies and Lewy neurites that are composed primarily of alpha-synuclein deposited in an aggregated amyloid fibril state. The normal function of alpha-synuclein is poorly understood, and the precise mechanisms by which it leads to toxicity and cell death are also unclear. Although alpha-synuclein is a highly soluble, cytoplasmic protein, it binds to a variety of cellular membranes of different properties and compositions. These interactions are considered critical for at least some normal functions of alpha-synuclein, and may well play critical roles in both the aggregation of the protein and its mechanisms of toxicity. Here we review the known features of alpha-synuclein membrane interactions in the context of both the putative functions of the protein and of its pathological roles in disease.
alpha-Synuclein* ; Amyloid ; Cell Death ; Cytoplasm ; Heredity ; Lewy Bodies ; Membranes* ; Neurites ; Neurons ; Parkinson Disease ; Synaptic Transmission