- A Case of Rhizomelic Chondrodysplasia Punctata
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Lee YD, Song MY, Kim HH, Han SH, Lee WB
- KMID: 2335134
- J Korean Pediatr Soc.
- 1994 Sep;37(9):1312-1316.
Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by radiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in... -
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- A Case of Chondrodysplasia Punctata
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Park HJ, Jang JB, Jee EK
- KMID: 2077161
- Korean J Obstet Gynecol.
- 2004 Sep;47(9):1779-1783.
Chondrodysplasia Punctata is a rare congenital disorder of bone in infant, which is characterized by radiographic manifestation of premature deposition of punctata calcific density in epiphyseal areas, preformed in cartilage.... -
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- A Case of Chondrodysplasia Punctata Combined with Unilateral Choanal Atresia
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Park YK, Park JH, Ryu JS, Kim KS
- KMID: 2275875
- Korean J Otolaryngol-Head Neck Surg.
- 2002 Feb;45(2):178-181.
Chondrodysplasia punctata is a rare congenital disease. It is classified into four main types according to the clinical features and heredity: autosomal dominant (Conradi-Hunermann's) type, autosomal recessive (rhizomelic) type, X-linked... -
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- 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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