Two case of a rare from of congenital ichthyosis in infants born to the same parents are presented. Typical features revealed of parchment like skin, ectropion of upper eyelids, and fixed semiflexion attitude of the upper limb. The skin lesion were followed by desquamation and appearance of normal looking skin from the the second day of life to a month. Diagnosis of collodion baby was established by clinical features, histopathological and laboratory studies. A brief feview of literatures were presented.
Collodion* ; Diagnosis ; Ectropion ; Eyelids ; Humans ; Ichthyosis ; Infant ; Parents ; Skin ; Upper Extremity

The Cornelia de Lange syndrome is characterized by severe growth and mental retardations and a cluster of minor malformations, the facial appearance being most characteristic. In the present paper, we shall report I case of this syndrome in Korean male infant and the variability of de Lange syndrome is discussed. The bady showed hirsutism, low forehead coved with lanugo-like hair, bushy eyebrows that meet in the midline, long curely eyelashes as well as low pitched, growling cry and skeletal abnormalities of hand bones. There is no positive family history and the karyotype was normal. Although the de Lange syndrome has received more interest there is no agreement as to the possible cause.
De Lange Syndrome* ; Eyebrows ; Eyelashes ; Forehead ; Hair ; Hand Bones ; Hirsutism ; Humans ; Infant ; Karyotype ; Male

A case of a achondroplasia in a 6 month-old-boy was presented with a brief review of the literature. He was admitted with the chief complaints of frequent respiratory infections, and stunted growth. This baby showed stunted growth, short arms and legs, prominent forehead, flatening of the bridge of the nose, and moderate degree of kyphosis. All laboratory datas were nomal. X-ray showed the thickness of the bones and their irregular epiphyseal ends. The pelvis squared, with flat acetabula and distally decreasing interpedunculate distance of the lumbar vertebrae. 14 month follow up study makes it possible to diagnosis as achodroplsia.
Acetabulum ; Achondroplasia* ; Arm ; Diagnosis ; Follow-Up Studies ; Forehead ; Kyphosis ; Leg ; Lumbar Vertebrae ; Nose ; Pelvis ; Respiratory Tract Infections

Hepatitis C virus (HCV) is a major causative agent in liver disease. In order to investigate if Korean type HCV core protein and its related mutants, S99Q and S116I, are cytopathic to liver, three types of transgenic mice were established. The expression of transgenes was confirmed by HCV specific RT-PCR and Western immunoblotting. The livers of all wild type core and S116I transgenic lineages remained largely histologically normal. However, the livers of the S99Q transgenic mice showed significant high level of cell dysplasia associated with the transgene expression in hepatocytes largely located around the central veins by in situ hybridization analysis. In conclusion, the mutant HCV core protein at S99Q may contribute to the progress of HCV induced liver disease.
Amino Acid Sequence ; Animals ; Base Sequence ; Gene Expression ; Genetic Vectors/genetics ; Hepatitis C/*pathology/virology ; Hepatitis, Viral, Animal/*pathology/virology ; Hepatocytes/pathology/virology ; Liver/pathology/*virology ; Mice ; Mice, Transgenic ; Molecular Sequence Data ; Mutation/genetics ; RNA, Messenger/chemistry/metabolism ; Research Support, Non-U.S. Gov't ; Transgenes ; Viral Core Proteins/analysis/*genetics/metabolism