• Search
  • Advanced Search

Search

  • HOME
  • Search
Case Report
A Case of Thanatophoric Dysplasia.
Hae Sook Cha, Hyun Hwa Kim, Young Hee You, Hyun Sook Lee, Jeong Rae Kim
Clin Exp Pediatr. 1984;27(5):521-526.   Published online May 31, 1984
A case of thanatophoric dysplasia was presented with a brief review of literature. The baby showed characteristic clinical feature with relatively large head, prominent forehead, flattening of the bridge of the nose and extremly short arm and legs. X-ray showed marked shortening of rib, narrow chest, flattened vertebral body within lumbar region, rectangular shape of pelvic bone, prominent softtissue of abdomen...
A Case of Pierre Robin Syndrome.
Hyun Hwa Kim, Hae Sook Cha, Byoung Hai Ahn, Young Hee You, Hyun Sook Lee
Clin Exp Pediatr. 1984;27(5):488-492.   Published online May 31, 1984
A case ef Pierre Robin Syndrome in a male baby who was born at the Korea Veterans Hospital was presented. After birth, dyspnea and feeding difficulty were developed. Physical examination revealed micrognathia, glossoptosis and cleft plate. Chromosomal analysis was normal pattern. This finding was compatible with Pierre Robin Syndrome. A brief review of literature was presented.
A Case of Edward Syndrome.
Hyun Hwa Kim, Hyun Sook Park, Young Hee Yu, Hyun Sook Lee
Clin Exp Pediatr. 1983;26(7):712-716.   Published online July 31, 1983
A case of 18 trisomy syndrome in a male baby who was born at our Korea Veterans Hospital was presented. Thisbaby has grossly multiple anomalies those were characterized by elongated skull, hypertelorism, low-set malformed ears, high arched palate, micrognathia, microphallus, limited abduction of hips, flexon deformity of fingers, rocker-bottom, feet and short big toes. Chromosomal study showed the 3rd. chromosome in No. 18 chromosome...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)