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Citation:
Weerakkody Y, Dew O, Knipe H, et al. Chondrodysplasia punctata. Reference article, Radiopaedia.org (Accessed on 19 Apr 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.
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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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
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5. Duff P, Harlass F, Milligan D. Prenatal Diagnosis of Chondrodysplasia Punctata by Sonography. Obstet Gynecol. 1990;76(3 Pt 2):497-500. - Pubmed
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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
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7. Mason R & Kozlowski K. Chondrodysplasia Punctata. Radiology. 1973;109(1):145-50. doi:10.1148/109.1.145 - Pubmed
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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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