Skip to search formSkip to main contentSkip to account menu

Chondrodysplasia Punctata

Known as: Chondrodysplasia Punctata (Stippled Epiphyses) Group, Chondrodysplasia Punctata [Disease/Finding], Chondrodystrophia Calcificans Congenita 
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe… 
National Institutes of Health

Related topics

Related topics

16 relations
AchondroplasiaChondrodysplasia punctata, X-linked dominant typeEpiphyseal dysplasiaIn Blood

Narrower (5)

Astley-Kendall syndromeBrachytelephalangic Chondrodysplasia PunctataChondrodysplasia Punctata SyndromePacman dysplasia

Broader (1)

chondrodystrophy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2002
Review
2002
Spinal Deformity in Chondrodysplasia Punctata
Background Data. Our purpose was to describe the deformities, natural history, and course of treatment in chondrodysplasia… 
Highly Cited
1995
Highly Cited
1995
XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome)
Happle syndrome is an X-linked dominant disorder with presumed lethality in hemizygous males; familial occurrence is rare. We… 
Highly Cited
1994
Highly Cited
1994
Phytanic acid must be activated to phytanoyl-CoA prior to its alpha-oxidation in rat liver peroxisomes.
1993
1993
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
An infant with the characteristic phenotype of classical rhizomelic chondrodysplasia punctata was found to have an isolated… 
Highly Cited
1985
Highly Cited
1985
Primary hyperparathyroidism associated with pancytosis.
Highly Cited
1981
Highly Cited
1981
Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata
Cataracts are suggested as a diagnostic marker to differentiate between the three types of chondrodysplasia punctata so far known… 
1977
1977
Chondrodysplasia punctata and maternal warfarin treatment.
A case of an infant with chondrodysplasia punctata born in December 1976 to a mother who had taken warfarin during the first… 
1976
1976
Chondrodysplasia punctata — Rhizomelic form
Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia… 
1966
1966
Skin manifestations of Conradi's disease. Chondrodystrophia congenita punctata.
Chondrodystrophia congenita punctata (Conradi's disease) is a multisystem defect usually seen within the first six to nine months… 
Highly Cited
1941
Highly Cited
1941
EPIPHYSIAL DYSGENESIS ASSOCIATED WITH HYPOTHYROIDISM
Clinical reports of the abnormalities of epiphysial ossification which occur in hypothyroidism during childhood have been… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)