No abstract available.
Embryonic Structures* ; Humans ; Wills*

Congenital generalized fibrosis of extraocular muscles is a rare congenital and usually familial anomaly involving fibrosis of most or all of the extraocular muscles and was described by Heuck and by Brown. All muscles, including the levator muscle, tend to be involved in this bilateral syndrome, although the muscles of one eye may be more involved than those of the other. Some muscles may be minimally fibrotic while others are maximally involved. The inferior rectus muscles are usually the most prone to maximal involvement, causing the eyes to be drawn downward and offering resistance to elevation. Because of this and the marked ptosis, a chin-up position is usually assumed to fixate objects straight ahead. Horizontal movements of the eye may be limited to a few degree in one or both directions or there may be no horizontal movements and perverted convergence movements occur on attempted upgaze. This condition may occur in an autosomal dominant inheritance and in a sporadic form. The authors experienced a case of congenital generalized fibrosis of extraocular muscles in a family occurred in an autosomal dominant inheritance.
Fibrosis* ; Humans ; Muscles* ; Wills

The congenital cataract is the relatively common cause of the blindness in childhood, and its etiology is multiple but most of etiology is unknown. The inheritance is the largest single category of cause of congenital cataract. The modes of the inheritance are autosomal dominant, autosomal recessive and X-linked. The autosomal dominant inheritance is the most common type. We experienced hereditary congenital cataract, which transmitted with autosomal dominant inheritance. So we reported this patients with review of literatures.
Blindness ; Cataract* ; Humans ; Wills

The study was conducted on 240 peptic ulcers among 1320 hospitalized patients at the Gastro-Intestinal Department from January 2000 to December 2000, suing retrospective and pedigree method. The analysis on 4 generations of this group, including 171 persons in 29 branches, 42 families showed that the disease was vertically inherited through generations like autosomal dominant inheritance. The incidence was 46.77% (26/62 patients). Male to female ratio was 2:1 (24 males:12 females). 5.55% of patients (2/36) have disease on at 15 years old or less, 52.78% (19/36) of patients onset between 16 to 40 years. 11.11% onset at 40 years or more. 30.56% of patients (11/36) were not identified the onset of disease.
Peptic Ulcer ; Wills

Pigmented Paravenous Retinochoroidal Atrophy(PPRCA) is a type of pigmentary retinopathy that affects mostly both eyes symmetrically without inheritance. The PPRCA occurs in both progressive and non-progressive forms, but most cases are non-progressive forms. The fundus appearance of PPRCA is characteristic, with peripapillary pigmentary change as well as areas of retinochoroidal atrophy adjacent to the perivenular pigmentary change. The authors have studied a case of PPRCA which was diagnosed through the characteristic fundus appearance and other ophthalmological examinations.
Atrophy ; Retinitis Pigmentosa ; Wills

How personality forms and whether personality genes exist are long-studied questions. Various concepts and theories have been presented for centuries. Personality is a complex trait and is developed through the interaction of genes and the environment. Twin and family studies have found that there are critical genetic and environmental components in the inheritance of personality traits, and modern advances in genetics are making it possible to identify specific variants for personality traits. Although genes that were found in studies on personality have not provided replicable association between genetic and personality variability, more and more genetic variants associated with personality traits are being discovered. Here, we present the current state of the art on genetic research in the personality field and finally list several of the recently published research highlights. First, we briefly describe the commonly used self-reported measures that define personality traits. Then, we summarize the characteristics of the candidate genes for personality traits and investigate gene variants that have been suggested to be associated with personality traits.
Genetic Research ; Humans ; Wills

Osteochondroma, also known as osteocartilaginous exostosis, or just exostosis, is the most common benign bone tumor. Most of osteochondromas are solitary lesions and affect long bones; however, about 12% of osteochondromas are multiple lesions with the autosomal dominant inheritance. Only 1~4% of solitary osteochondromas originate in the spine. Symptoms vary depending on its location. We experienced a case of osteochondroma of the atlas presenting as an oropharyngeal mass. We report the case with a review of literatures.
Exostoses ; Osteochondroma* ; Spine ; Wills

Darier's disease is a genetic disorder of keratinization with autosomal dominant inheritance. Its appearance is usually in the form of greasy, crusted, keratotic yellow-brown papules and plaques found particularly on seborrheic areas of the body. However, there are some clinical variants showing atypical skin lesions. Here we report an unusual case of Darier's disease, which mainly showed prominent comedonal papules over the face.
Darier Disease ; Keratins ; Skin ; Wills

The Harlequin fetus-ichthyosis fetalis-is known to be rare. Recently, we experienced a case of Harlequin fetus in stillborn infant due to autosomal recessive inheritance likely. A review of literature was done briefly.
Humans ; Ichthyosis, Lamellar* ; Infant ; Wills

The cleidocranial dysostosis is relatively rare congenital and familial disorder with autosomal dominant inheritance. After the first report of a case of this was that of Cutter in 1870, which was quoted from Soule, A., in 1946, Marie and Sainton supplied the name of the Cleidocranial dysostosis with the report of 2 cases of this in 1897. Since that time approximately 350 cases have been described in the literature. This condition is characterized by deficient formation of the clavicle, delayed and imperfect ossification of the cranium and less often involvement of other bones, We experienced 2 cases of this and reported them in this paper with a brief review of the literatures.
Clavicle ; Cleidocranial Dysplasia ; Skull ; Wills