- A Case of Chondrodysplasia Punctata
-
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.... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Chondrodysplasia Punctata of the Rhizomelic Type
-
Min KS, Cho BK, Sung IK, Lee BC
- KMID: 1682732
- J Korean Pediatr Soc.
- 1989 Jan;32(1):87-91.
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Rhizomelic Chondrodysplasia Punctata
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of the Non-rhizomelic Chondrodysplasia Punctata
-
Son IJ, Moon KR, Park SK, Park YB, Kim YS
- KMID: 1661972
- J Korean Pediatr Soc.
- 1995 Jul;38(7):1000-1005.
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- Nonrhizomelic Type of Chondrodysplasia Punctata Suspected in the Brothers
-
Kim JS, Jung HS, Kim YS, Park CH, Choi MB, Woo HO, Youn HS
- KMID: 2207359
- J Korean Pediatr Soc.
- 2001 Oct;44(10):1187-1192.
Chondrodysplasia punctata is a heterogenous skeletal dysplasia characterized by small focal calcifications in articular and other cartilages in infancy, with subsequent epiphysial dysplasia and associated anomalies of the face, eyes,... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of X-linked Dominant Chondrodysplasia Punctata
-
Choi WS, Kang YS, Park HS, Jang SJ, Lee UH
- KMID: 2014474
- Korean J Dermatol.
- 2007 Dec;45(12):1294-1297.
X-linked dominant chondrodysplasia punctata is a rare congenital disorder characterized by transient punctate epiphyseal calcifications and ichthyotic skin changes, usually resolving during early infancy. We experienced a baby girl born... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Chondrodysplasia Punctata Combined with Unilateral Choanal Atresia
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Chondrodysplasia Punctata(Rhizomelic Type) Associated with Pneumothorax
-
Mok JS, Kim JE, Lee DS, Choi SM, Kim DK
- KMID: 2207436
- J Korean Pediatr Soc.
- 2001 Aug;44(8):965-970.
Chondrodysplasia punctata is a rare congenital syndrome caused by a peroxisomal dysfunction. Chondrodysplasia punctata is classified into four main types-Coradi-Hunermann's type, rhizomelic type, X-linked dominant form and X-linked recessive form.... -
- CITED
-
- Close
- SHARE
-
- Close
- Dysplasia Epiphysialis Punctata: A Case Report
-
Lee HB, Ha SH, Oh SK, Kang CJ, Kim YC
- KMID: 2445921
- J Korean Orthop Assoc.
- 1986 Aug;21(4):709-712.
- doi: 10.4055/jkoa.1986.21.4.709
Dysplasia epiphysialis punctata is a rare congenital disorder of infancy affecting in particular cartilage, muscle, jointtcapsules and the eyes. A case of dysplasia epiphysialis punctata with involvement of all epiphyses... -
- CITED
-
- Close
- SHARE
-
- Close
- Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodysplasia Punctata
-
Doo JW, Jang JH, Cho EH, Kim JK, Cho SC
- KMID: 2350289
- Neonatal Med.
- 2016 Aug;23(3):178-182.
- doi: 10.5385/nm.2016.23.3.178
X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. It is a rare congenital disorder of punctate calcifications... -
- CITED
-
- Close
- SHARE
-
- Close
- Binder Syndrome Infant Born from Mother with Cholelithiasis
-
Lee HJ, Lee KM, Kim DH, Kim DH, Lee JA, Park KD, Lim JS
- KMID: 1482021
- J Korean Soc Pediatr Endocrinol.
- 2008 Dec;13(2):188-192.
Binder syndrome is a maxillonasal dysostosis characterized by midface and nasal hypoplasia. It is sometimes associated with short terminal phalanges of fingers and toes and transient radiological features of chondrodysplasia... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Rhizomelic Chondrodysplasia Punctata Type I
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Conradi-Hünermann-Happle Syndrome Misdiagnosed as Rud's Syndrome in Korea
-
Lee H, Happle R
- KMID: 2419762
- Ann Dermatol.
- 2018 Oct;30(5):629-630.
- doi: 10.5021/ad.2018.30.5.629
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of X;Y Translocation with Complex Minor Anomalies and Mental Retardation: 46,Y,der(X)t(X;Y)(p22.3;q11.2)mat
-
Ha JS, Ryoo NH, Jeon DS, Kim JR, Cho YJ, Kim EJ, Kim SH, Woo HY
- KMID: 2146097
- Korean J Clin Pathol.
- 2002 Apr;22(2):125-129.
A three year old boy was admitted due to minor anomalies, such as hypertelorism, clinodactyly, ear anomaly, simian crease, renal anomalies, cryptorchism and mild mental retardation. The chro-mosome and FISH... -
- CITED
-
- Close
- SHARE
-
- Close
- Prenatal Diagnosis of der(X)t(X;Y)(p22.31;q11.22) in a Male Fetus by Using Array Comparative Genomic Hybridization
-
Kim H, Seo EJ, Lee JO, Hong M, Shim JY, Lee BH
- KMID: 1845397
- Lab Med Online.
- 2013 Jan;3(1):50-55.
- doi: 10.3343/lmo.2013.3.1.50
Xp/Yq translocations are rare chromosomal rearrangements, and the phe-notype of male carriers varies according to the segment of the Xp region that is deleted. In this case report, we describe... -
- CITED
-
- Close
- SHARE
-
- Close
- Chondrodystrophia Calcificans Congenita
-
Sohn SK, Park SR, Park CI, Namgoong S
- KMID: 2456494
- J Korean Orthop Assoc.
- 1980 Jun;15(2):356-360.
- doi: 10.4055/jkoa.1980.15.2.356
Chondrodystrophia calcificans congenita is a rare disorder of bone, occuring in infants, which is characterized by radiographic manifestation of premature deposition of punctate calcific density in those epiphyseal areas, preformed... -
- CITED
-
- Close
- SHARE
-
- Close
- Fetal Musculoskeletal Malformations with a Poor Outcome: Ultrasonographic, Pathologic, and Radiographic Findings
-
Lee SH, Cho JY, Song MJ, Min JY, Han BH, Lee YH, Cho BJ, Kim SH
- KMID: 754070
- Korean J Radiol.
- 2002 Jun;3(2):113-124.
- doi: 10.3348/kjr.2002.3.2.113
The early and accurate antenatal diagnosis of fetal musculoskeletal malfomations with a poor outcome has important implications for the management of a pregnancy. Careful ultrasonographic examination of a fetus helps... -
- CITED
-
- Close
- SHARE
-
- Close
- A case of warfarin embryopathy
-
Kim SY, Kim IG, Lee YM, Kim YS, Yang KY, Jung E
- KMID: 2280767
- Korean J Perinatol.
- 2008 Mar;19(1):66-70.
Warfarin is an oral anticoagulant which is known to cross the placenta causing birth defects, known as warfarin embryopathy; fetal effects of early gestational exposure to warfarin is known to... -
- CITED
-
- Close
- SHARE
-
- Close
