Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Dew O, Knipe H, et al. Chondrodysplasia punctata. Reference article, Radiopaedia.org (Accessed on 26 Jun 2024) https://doi.org/10.53347/rID-15018
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 punctata can be broadly divided into rhizomelic and non-rhizomelic forms:
Genetics
Chondrodysplasia punctata 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.
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Treatment and prognosis
While prognosis is variable, the rhizomelic forms can be lethal 3.
Stippled epiphyses can also be seen in:
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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
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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
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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
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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
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