scholarly journals Rhizomelic chondrodysplasia punctata - case report

2003 ◽  
Vol 79 (2) ◽  
pp. 189-92 ◽  
Author(s):  
Gilberto Pascolat ◽  
José L. Zindeluk ◽  
Karen C. Abrão ◽  
Fabiana M. Rodrigues ◽  
Carolina I. M. Guedes
Keyword(s):  
Case Report ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

scholarly journals RHIZOMELIC CHONDRODYSPLASIA PUNCTATA: A RARE CASE REPORT

2015 ◽  
Vol 4 (04) ◽  
pp. 711-715
Author(s):  
Yashodhara P ◽  
Elizabeth B ◽  
MadhavI N ◽  
Deeva Kuma B ◽  
Tirupathi Reddy A
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Rare Case Report

scholarly journals A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report

Cureus ◽  
2021 ◽  
Author(s):  
Aiman M Shawli ◽  
Abdulaziz T Nazer ◽  
Yasir Khayyat ◽  
Mohammed G Alqurashi ◽  
Fahad Hakami
Keyword(s):  
Case Report ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Novel Variant ◽  
Type 3

Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology

2011 ◽  
Vol 155 (12) ◽  
pp. 3160-3163 ◽  
Author(s):  
Gretchen Oswald ◽  
Cathleen Lawson ◽  
Gerald Raymond ◽  
W. Christopher Golden ◽  
Nancy Braverman
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

O43 – 1896 The neurology of rhizomelic chondrodysplasia punctata

2013 ◽  
Vol 17 ◽  
pp. S14
Author(s):  
AM Bams-Mengerink ◽  
JHTM Koelman ◽  
H Waterham ◽  
PG Barth ◽  
BT Poll-The
Keyword(s):  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

scholarly journals A Case of Rhizomelic Chondrodysplasia Punctata in Newborn

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Nalan Karabayır ◽  
Gonca Keskindemirci ◽  
Erdal Adal ◽  
Orhan Korkmaz
Keyword(s):  
Soft Tissues ◽  
Clinical Symptoms ◽  
Current Knowledge ◽  
Chondrodysplasia Punctata ◽  
Long Bones ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Cervical Spinal Stenosis ◽  
Brain And Spinal Cord ◽  
The Brain ◽  
Severe Growth

Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The main features of the disease are shortening of the proximal long bones, punctate calcifications located in the epiphyses of long bones and in soft tissues around joints and vertebral column, vertebral clefting, dysmorphic face, and severe growth retardation, whereas cervical spinal stenosis may also rarely be present. Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions. We report the newborn diagnosed as CDP with cervical stenosis. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with CDP.

scholarly journals Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Guannan He ◽  
Yan Yin ◽  
Jing Zhao ◽  
Xueyan Wang ◽  
Jiaxiang Yang ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Chondrodysplasia Punctata ◽  
Recessive Type
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