Peroxisomal Abnormalities in Rhizomelic Chondrodysplasia Punctata

1986 ◽  
pp. 329-331
Author(s):  
H. S. A. Heymans ◽  
J. W. E. Oorthuys ◽  
G. Nelck ◽  
R. J. A. Wanders ◽  
K. P. Dingemans ◽  
...  
Keyword(s):  
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 Rhizomelic Chondrodysplasia Punctata Type I

2010 ◽  
Vol 01 (02) ◽  
pp. 84-86 ◽  
Author(s):  
Moataz Abbara ◽  
Abdullah Tolaymat ◽  
M. Adel Abdessamad ◽  
M. Sami Walid
Keyword(s):  
Chondrodysplasia Punctata ◽  
Type I ◽  
Rhizomelic Chondrodysplasia Punctata

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update

2019 ◽  
Vol 182 (3) ◽  
pp. 579-583 ◽  
Author(s):  
Angela L. Duker ◽  
Timothy Niiler ◽  
Dagmar Kinderman ◽  
Monica Schouten ◽  
Bwee Tien Poll‐The ◽  
...  
Keyword(s):  
Morbidity And Mortality ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

1997 ◽  
Vol 15 (4) ◽  
pp. 377-380 ◽  
Author(s):  
Alison M. Motley ◽  
Ewald H. Hettema ◽  
Eveline M. Hogenhout ◽  
Pedro Brites ◽  
Anneloor L.M.A. ten Asbroek ◽  
...  
Keyword(s):  
Protein Targeting ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Peroxisomal Protein
Sign in / Sign up

Export Citation Format

Share Document