Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Bell D, Gaillard F, et al. Kniest dysplasia. Reference article, Radiopaedia.org (Accessed on 28 Mar 2024) https://doi.org/10.53347/rID-15842
Kniest dysplasia is rare type of short limbed skeletal dysplasia.
Genetics
It is thought to carry an autosomal dominant inheritance. Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene, which encodes for type II collagen (therefore classified as a type II collagenopathy).
General
Described features include
- non-ossified epiphyses
- absent ossification of the pubic bones
- delayed ossification of the femoral heads
- flatted ovoid vertebral bodies +/- coronal clefts
- dumb-bell shaped femurs
- short limbs: micromelia
- exaggerated metaphyseal flaring
- enlargement of the epiphysis with cloud-like calcifications at the physis
- metacarpal epiphyseal flattening
- enlargement of the metacarpal and proximal phalangeal ends
History and etymology
It is named after Wilhelm Kniest (1919-fl.1997) 12, a German pediatrician who first described the condition in 1952 4,8.
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1. Yazici Z, Kline-fath BM, Laor T et-al. Fetal MR imaging of Kniest dysplasia. Pediatr Radiol. 2010;40 (3): 348-52. doi:10.1007/s00247-009-1444-x - Pubmed citation
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2. Oestreich AE, Prenger EC. MR demonstrates cartilaginous megaepiphyses of the hips in Kniest dysplasia of the young child. Pediatr Radiol. 1992;22 (4): 302-3. - Pubmed citation
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3. Cole WG. Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations. Clin. Orthop. Relat. Res. 1997;(341): 162-9. - Pubmed citation
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4. Spranger J, Winterpacht A, Zabel B. Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. Am. J. Med. Genet. 1997;69 (1): 79-84. Am. J. Med. Genet. (link) - Pubmed citation
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5. Schumacher R, Seaver LH, Spranger J. Fetal Radiology, A Diagnostic Atlas. Springer Verlag. (2011) ISBN:3642035590. Read it at Google Books - Find it at Amazon
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6. Dwek JR. Kniest dysplasia: MR correlation of histologic and radiographic peculiarities. Pediatr Radiol. 2005;35 (2): 191-3. doi:10.1007/s00247-004-1300-y - Pubmed citation
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7. Chen H, Yang SS, Gonzalez E. Kniest dysplasia: neonatal death with necropsy. Am. J. Med. Genet. 1980;6 (2): 171-8. doi:10.1002/ajmg.1320060211 - Pubmed citation
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8. Kniest W. [Differential diagnosis between dysostosis enchondralis and chondrodystrophy]. Z Kinderheilkd. 1952;70 (6): 633-40. - Pubmed citation
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9.Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. (2014) World Journal of Radiology. 6 (10): 808. doi:10.4329/wjr.v6.i10.808 - Pubmed
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10. Lachman RS, Rimoin DL, Hollister DW, Dorst JP, Siggers DC, McAlister W, Kaufman RL, Langer LO. The Kniest syndrome. (1975) The American journal of roentgenology, radium therapy, and nuclear medicine. 123 (4): 805-14. Pubmed
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11. Subramanian S, Gamanagatti S, Sinha A, Sampangi R. Kniest syndrome. (2007) Indian pediatrics. 44 (12): 931-3. Pubmed
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12. Greta Beighton. The Person Behind the Syndrome. (2012) ISBN: 9781447109259
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