- Case Report
- Pena-Shokeir I Syndrome in a Newbonrn Infant
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Myung Gil Han, Kyu Young Kim, Dong Woo Son, Bo Young Yoon, Kyung Hee Park, Do Hyun Kim, Hyung Ro Moon
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Clin Exp Pediatr. 1997;40(5):721-725. Published online May 15, 1997
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Pena-Shokeir I syndrome is a multiple malformation syndrome displaying characteristics of camptodactyly, multiple ankylosis, severe muscle weakness, facial anomalies (low set ears, hypertelorism, depressed tip of nose), polyhydramnios, fetal growth retardation & pulmonary hypoplasia which are inherited by autosomal recessive trait.
We experienced 1 case of Pena-Shokeir I syndrome in a neonate (41 weeks, 2.08Kg). This patient suffered from dyspnea. Respiratory... |
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- Herditary Anhidrotic Ectodermal Dysplasiain Twins
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Myung Gil Han, Do Hyun Kim, Hyung Ro Moon
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Clin Exp Pediatr. 1996;39(7):1005-1009. Published online July 15, 1996
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Hereditary anhidrotic ectodermal Dysplasia is a congenital disease displaying characteristics of
anhidrosis, hypotrichosis and dental defect which are caused by developmental anomaly of
ectodermal epidermis and its appendages.
We experienced two cases of hereditary anhidrotic ectodermal dysplasia in two-year and
four-month old twin brothers. These patients suffered from intermittent high fever early in life
which brought them to our clinical attention. However the diagnosis of... |
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