- A Case of Rhizomelic Chondrodysplasia Punctata Type I
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Kim DH, Kwon YS, Jun YH, Hong YJ, Son BK, Yoon HR
- KMID: 2207109
- J Korean Pediatr Soc.
- 2002 Dec;45(12):1585-1590.
Rhizomelic chondrodysplasia punctata(RCDP) is a rare autosomal recessive disorder clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a typical dysmorphic face, cataracts, and itchyosis. Patients with... -
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- A Case of Neonatal Adrenoleukodystrophy Presented with Neonatal Seizure
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Choi J, You SJ, Ko TS, Kim EA, Kim KS, Pi SY, Yoo HW
- KMID: 2177020
- J Korean Child Neurol Soc.
- 2005 May;13(1):99-103.
Neonatal adrenoleukodystrophy(NALD) is an inherited autosomal recessive disease characterized by very early onset of neurologic deterioration, extreme hypotonia, poor sucking reflex, failure to thrive, poor or absent grasp and Moro... -
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