Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Knipe H, Sheikh Y, et al. Chondrodysplasia punctata. Reference article, Radiopaedia.org (Accessed on 29 Sep 2023) https://doi.org/10.53347/rID-15018
Disclosures:
At the time the article was last revised Henry Knipe had the following disclosures:
- Radiopaedia Events Pty Ltd, Speaker fees (past)
- Integral Diagnostics, Shareholder (ongoing)
- Micro-X Ltd, Shareholder (ongoing)
These were assessed during peer review and were determined to
not be relevant to the changes that were made.
View Henry Knipe's current disclosures
Chondrodysplasia punctata is a collective name for a heterogenous group of skeletal dysplasias. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature.
Subtypes
Chondrodysplasia punctate can be broadly divided into rhizomelic and non-rhizomelic forms:
Genetics
Chondrodysplasia punctate can have various inheritance patterns depending on different types ranging from autosomal dominant to autosomal recessive to X-linked dominant to X-linked recessive.
While they carry the common hallmark of epiphyseal calcific deposits 9 the exact set of radiographic features will vary between different subtypes.
Treatment and prognosis
While prognosis is variable, the rhizomelic forms can be lethal 3.
Stippled epiphyses can also be seen in:
- 1. Dranchak P, Di Pietro E, Snowden A et al. Nonsense Suppressor Therapies Rescue Peroxisome Lipid Metabolism and Assembly in Cells from Patients with Specific PEX Gene Mutations. J Cell Biochem. 2011;112(5):1250-8. doi:10.1002/jcb.22979 - Pubmed
- 2. Benaicha A, Dommergues M, Jouannic J et al. Prenatal Diagnosis of Brachytelephalangic Chondrodysplasia Punctata: Case Report. Ultrasound Obstet Gynecol. 2009;34(6):724-6. doi:10.1002/uog.7452 - Pubmed
- 3. Argo K, Toriello H, Jelsema R, Zuidema L. Prenatal Findings in Chondrodysplasia Punctata, Tibia-Metacarpal Type. Ultrasound Obstet Gynecol. 1996;8(5):350-4. doi:10.1046/j.1469-0705.1996.08050350.x - Pubmed
- 4. Sastrowijoto S, Vandenberghe K, Moerman P, Lauweryns J, Fryns J. Prenatal Ultrasound Diagnosis of Rhizomelic Chondrodysplasia Punctata in a Primigravida. Prenat Diagn. 1994;14(8):770-6. doi:10.1002/pd.1970140821 - Pubmed
- 5. Duff P, Harlass F, Milligan D. Prenatal Diagnosis of Chondrodysplasia Punctata by Sonography. Obstet Gynecol. 1990;76(3 Pt 2):497-500. - Pubmed
- 6. Irving M, Chitty L, Mansour S, Hall C. Chondrodysplasia Punctata: A Clinical Diagnostic and Radiological Review. Clin Dysmorphol. 2008;17(4):229-41. doi:10.1097/MCD.0b013e3282fdcc70 - Pubmed
- 7. Mason R & Kozlowski K. Chondrodysplasia Punctata. Radiology. 1973;109(1):145-50. doi:10.1148/109.1.145 - Pubmed
- 8. Casarin A, Rusalen F, Doimo M et al. X-Linked Brachytelephalangic Chondrodysplasia Punctata: A Simple Trait That is Not So Simple. Am J Med Genet A. 2009;149A(11):2464-8. doi:10.1002/ajmg.a.33039 - Pubmed
- 9. Pazzaglia U, Zarattini G, Donzelli C, Benetti A, Bondioni M, Groli C. The Nature of Cartilage Stippling in Chondrodysplasia Punctata: Histopathological Study of Conradi-Hünermann Syndrome. Fetal Pediatr Pathol. 2008;27(2):71-81. doi:10.1080/15513810802077487 - Pubmed
- 11. Leicher-Düber A, Schumacher R, Spranger J. Stippled Epiphyses in Fetal Alcohol Syndrome. Pediatr Radiol. 1990;20(5):369-70. doi:10.1007/BF02013185 - Pubmed
- Umranikar S, Glanc P, Unger S et al. X-Linked Dominant Chondrodysplasia Punctata: Prenatal Diagnosis and Autopsy Findings. Prenat Diagn. 2006;26(13):1235-40. doi:10.1002/pd.1594 - Pubmed
Promoted articles (advertising)
Unable to process the form. Check for errors and try again.