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Sprengel's Deformity를 동반한 Klippel Feil 증후군 1예
이상주,김창휘,강명호,문만식 순천향대학교 1985 논문집 Vol.8 No.3
The Klippel Feil syndrome is characterized by a congenital deformity of the cervical spine in the form of a numerical reduction of the cervical vertebrae due to fusion of the vertebral bodies and is associated with multiple abnormality of the musculoskeletal, renal anomalies, cardiovascular anomalies, deafness and synkinesia. We have experienced a case of Klipple Feil syndrome in 1 day old male neonate who had short neck, lower hairline and sprengel’s deformity. The diagnois was easily established by clinocal features and radiologic examinations. A brief review of the pertinent literatures is given.
이동환,문만식,방문혜,윤영래,이상주 순천향대학교 1987 논문집 Vol.10 No.2
In 1946 Potter described a series of 20 cases of infants who had bilateral absence of the kidneys, hypoplasia of the lung and characteristic facial appearance. The main facial features are increased space between the eyes, a prominent fold which arises at inner canthus and sweeps downward and laterally below the eyes, a prominent fold which arises at inner canthus and sweeps downward and laterally below the eyes, unusual flattening of the nose, excessive recession of the chin, moderate enlargement and decreased chondrification of the ear, and suggestion of premature senility. We experienced a female neonate of Potter syndrome confirmed by autopsy which revealed bilateral renal agenesis, bilateral pneumothorax, characteristic facial appearance and dysgenesis of the left limb. Key Words : Potter syndrome, pneumothorax, renal agenesis.
이상주,김은미,문만식,김경욱 순천향대학교 1985 논문집 Vol.8 No.3
This baby had grossly multiple anomalies. there were characterized by hypertelorism, elongated skull, low-set malformed ears, high arched palate, micrognathia, limited Abduction of hips, flexion deformity of fingers, Rocker-bottom feet big toes. Chromosomal study showed the 3rd chromosome in No. 18 chromosome and total chromosome number was 47. This findings were Compatible to Edward syndrome in clinical feature and chromosomal study. A brief review of literature was presented.