- Original Article
- A Clinical Study in Phenylketonuria
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Hye Kyeong Nam, Jin Seop Shim, Dong Hwan Lee, Sang Jhoo Lee, Ki Weon Cha, Jeong Bin Yim
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Clin Exp Pediatr. 1992;35(1):69-79. Published online January 15, 1992
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Thirteen cases of phenylketonuria who were diagnosed at department of pediatrics, Soonchunhyang University Hospital, and four cases at other hospitals and other countries from July, 1984 to April, 1991 were reviewed and analyzed.
The results were as follow: 1) All 17 cases were between the age of 3 days and 19 years, and the male to female ratio was 1.43:1. 2)... |
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- A case of 11q deletion syndrome.
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Hye Kyeong Nam, Rhee Choi, Chang Hwi Kim, Sang Jhoo Lee
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Clin Exp Pediatr. 1991;34(11):1587-1592. Published online November 30, 1991
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11q-syndrome is a rare chromosomal anomaly.
We experienced a case of llq deletion syndrome in a female infant. It was diagnosed by clinical
features and chromosomal study. She had multiple anomalies such as flat occiput, hypertelorism, low
set malformed ear, anteverted nostril, small carp-shaped mouth, micrognathia, hypertrophic pyloric
stenosis and ventricular septal defect.
Chromosomal study showed partial terminal deletion of the long arm of chromosome... |
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