Kniest dysplasia is a rare autosomal dominant chondrodysplasia that is characterized by distinct musculoskeletal and craniofacial irregularities. These craniofacial abnormalities include cleft palate, midface anomalies, tracheomalacia, and hearing loss. This article illustrates a case of Kniest dysplasia that presented for orthodontic treatment. The purpose of this literature review is to describe clinical manifestations, radiographic features, histopathological features, genetic mutation, and management of Kniest dysplasia.
Barat-HouariMDumontBFabreAThemFTAlembikYAlessandriJLAmielJAudebertSBaumann-MorelCBlanchetPet al.The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. Eur J Hum Genet. 2016;24(7):992–1000.
3.
BaronaRArmengotMGarínLMontaltJBasterraJ. Kniest syndrome. An audiological study. An Otorrinolaringol Ibero Am. 1993;20(2):133–141.
4.
Ben JamaaNMasmoudiAGhaffariCLimamWSiala-GaigiS. Kniest dysplasia. Tunis Med. 2012;90(12):902–903.
5.
BogaertRWilkinDWilcoxWRLachmanRRimoinDCohnDHEyreDR. Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia. Am J Hum Genet. 1994;55(6):1128–1136.
6.
BrillPWKimHJBeratisNGHirschhornK. Skeletal abnormalities in the Kniest syndrome with Mucopolysacchariduria. Am J Roentgenol Radium Ther Nucl Med. 1975;125(3):731–738.
7.
BromleyBMillerWFosterSCBenacerrafBR. The prenatal sonographic features of Kniest syndrome. J Ultrasound Med. 1991;10(12):705–707.
8.
BuschangPHCarilloRRossouwPE. Orthopedic correction of growing hyperdivergent, retrognathic patient with miniscrew implants. J Oral Maxillofac Surg. 2011;69(3):754–762.
9.
ChalamKVTripathiRCTripathiBJShahVAYeeDPakalnisVA. Cataract in Kniest dysplasia: clinicopathologic correlation. Arch Ophthalmol. 2004;122(6):913–915.
10.
ChenHYangSSGonzalezE. Kniest dysplasia: neonatal death with necropsy. Am J Med Genet. 1980;6(2):171–178.
11.
ChenLYangWColeWG. Recurrent transition at a CG dinucleotide in exon 12 of COL2A1 produces kniest dysplasia with abnormal RNA splicing by chondrocytes and lymphoblasts and interruption of the triple helix of type II collagen. Ann N Y Acad Sci. 1996;785:234–237.
12.
ColeWG. Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations. Clin Orthop Relat Res. 1997;341:162–169.
13.
CirilloSMDaviGFBiancoRDeMarcoAFranceschiniP. Kniest disease with Pierre Robin syndrome and hydrocephalus. Pediatr Radiol. 1983;13(2):106–109.
14.
DouglasGR. The ocular findings in Kniest dysplasia. Am J Ophthalmol. 1985;100(1):860–861.
15.
DwekJR. Kniest dysplasia: MR correlation of histologic and radiographic peculiarities. Pediatr Radiol. 2005;35(2):191–193.
16.
FaragTIAl-AwadiSAHuntMCSatyanathSZahranMUshaRUmaR. A family with spondyloepimetaphyseal dwarfism: a ‘new’ dysplasia or Kniest disease with autosomal recessive inheritance?J Med Genet. 1987;24(10):597–601.
17.
FernandesRJWilkinDJWeisMAWilcoxWRCohnDHRimoinDLEyreDR. Incorporation of structurally defective type II collagen into cartilage matrix in Kniest chondrodysplasia. Arch Biochem Biophys. 1998;355(2):282–290.
18.
FrayhaRAFrayhaHMelhemR. Hand arthropathy: a clue to the diagnosis of the Kniest (Swiss cheese cartilage) dysplasia. Rheumatol Rehabil. 1980;19(3):167–169.
19.
FriedeHMatalonRHarrisVRosenthalIM. Craniofacial and mucopolysaccharide abnormalities in Kniest dysplasia. J Craniofac Genet Dev Biol. 1985;5(3):267–276.
20.
GarzaRMAlyonoJCDorfmanDWWanDC. Mandibular distraction in a patient with type II collagenopathy. J Craniofac Surg. 2017;28(8):2073–2075.
21.
Gilbert-BarnesELangerLOJrOpitzJMLaxovaRSotelo-ArilaC. Kniest dysplasia: radiologic, histopathological, and scanning electronmicroscopic findings. Am J Med Genet. 1996;63(1):34–45.
22.
HicksJDe JongABarrishJZhuSHPopekE. Tracheomalacia in a neonate with Kniest dysplasia: histopathologic and ultrastructural features. Ultrastruct Pathol. 2001;25(1):79–83.
23.
HochartADieuxACouckePFronDFayouxPLabalettePBoutryNEscandeFAubertSRenaudFet al.Association between Kniest dysplasia and chondrosarcoma in a child. Am J Med Genet A. 2015;167A(12):3204–3208.
24.
HortonWARimoinDL. Kniest dysplasia. A histochemical study of the growth plate. Pediatr Res. 1979;13(11):1266–1270.
25.
HuZYinXLiaoJZhouCYangZZouS. The effect of teeth extraction for orthodontic treatment on upper airway: a systematic review. Sleep Breath. 2015;19(2):441–451.
26.
HusainQChoJNeugartenJModiVK. Surgery of the head and neck in patient with Kniest dysplasia: Is wound healing an issue?Int J Pediatr Otorhinolaryngol. 2017;93:97–99.
27.
KagotaniYTakaoKNomuraKOkuboK. Two cases of Kniest dysplasia—ocular manifestations. Nippon Ganka Gakkai Zasshi. 1995;99(3):376–383.
28.
KniestW. Zur abgrenzung der dysostosis enchondralis von der chondrodystrophie. Z. Kinderheilk. 1952;70(6):633–640.
29.
KimHJBeratisNGBrillPRaabEHirschhornKMatalonR. Kniest syndrome with dominant inheritance and mucopolysacchariduria. Am J Hum Genet. 1975;27(6):755–764.
30.
KozlowskiKBarylakAKobielowaZ. Kniest syndrome (report of two cases). Australas Radiol. 1977;21(1):60–67.
31.
KozicSSestanBMatovinovicD. Kniest dysplasia: patient’s growth progress and development--evolution of abnormalities, 30 year follow up. Acta Med Okayama. 1997;51(5):285–294.
32.
LachmanRSRimoinDLHollisterDWDorstJPSiggersDCMcAlisterWKaufmanRLLangerLO. The Kniest syndrome. Am J Roentgenol Radium Ther Nucl Med. 1975;123(4):805–814.
33.
MakinoIWatanabeMOkamotoNOhguroNFukudaMEmiK. A case of retinal detachment in Kniest dysplasia treated with vitreous surgery. Nippon Ganka Gakkai Zasshi. 1997;101(9):734–737.
34.
MaldjianCChewFSKleinRBonakdarpourAMcCarthyJKellyJ. Kniest dysplasia: new radiographic features in the skeleton. Radiol Case Rep. 2015;2(2):72–77.
35.
MaumeneeIHTraboulsiEI. The ocular findings in Kniest dysplasia. Am J Ophthalmol. 1985;100(1):155–160.
36.
MerrillKDSchmidtTL. Occipitoatlantal instability in a child with Kniest syndrome. J Pediatr Orthop. 1989;9(3):338–340.
37.
MoriwakeTKawakami-ShinozukaMYasumitsuMNakamuraT. Kniest dysplasia with severe tracheomalacia: bone dysplasia with respiratory complication. Clin Pediatr Endocrinol. 2005;14(suppl 24):73–76.
38.
NiwaYHirabayashiYSeoNInoueHSeichiA. Use of parker flex-tip tracheal tube in a patient with Kniest dysplasia. Masui. 2011;60(5):631–634.
39.
OestreichAEPrengerEC. MR demonstrates cartilaginous megaepiphyses of the hips in Kniest dysplasia of the young child. Pediatr Radiol. 1992;22(4):302–303.
40.
PascualCastroviejo ICasasCLarrauriJMartínezBermejo A. [Kniest's syndrome. Two cases with psychomotor retardation (Spanish Article)]. An Esp Pediatr. 1977;10(10):761–768.
41.
PennockCAGordonIRLongdonKBurmanD. Keratan sulphate excretion in a patient with Kniest dysplasia. J Inherit Metab Dis. 1980;2(3):75–78.
42.
PooleARPidouxIReinerARosenbergLHollisterDMurrayLRimoinD. Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly. J Clin Invest. 1988a;81(2):579–589.
43.
PooleARRosenbergLMurrayLRimoinD. Kniest dysplasia: a probable type II collagen defect. Pathol Immunopathol Res. 1988b;7(1-2):95–98.
44.
RimoinDL. Histopathology and ultrastructure of cartilage in the chondrodystrophies. Birth Defects Orig Artic Ser. 1974;10(9):1018.
45.
RimoinDLSiggersDCLachmanRSSilberbergR. Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias. Clin Orthop Relat Res. 1976;(114):70–82.
46.
RimoinDLLachmannRS. Osteochondrodysplasias. In: Emery AEN, Principles and practice of medical genetics (2nd Edition). Livingstone, New York. 895–932.
47.
SarkaPDanielaZIvoMGreetMKazimierzK.Kniest Dysplasia in a Girl Aged 6 Years. J Rare Dis Diagn Ther. 2016;2(1):1–6.
48.
SegawaYEnomotoHNakagawaTIijimaY. Growth causes difficult tracheal intubation in a patient with Kniest dysplasia. J Anesth. 2001;15(2):104–105.
49.
SergouniotisPIFinchamGSMcNinchAMSpickettCPoulsonAVRichardsAJRichardsAJSneadMP. Ophthalmic and molecular genetic findings in Kniest dysplasia. Eye (Lond). 2015;29(4):475–482.
50.
SestanBMatovinoviaeDNemecBGulanGMiletiaeD.Undelayed femoral head ossification in Kniest dysplasia. Evolution of hip abnormalities, 30-year follow-up. West Indian Med J. 2003;52(3):261–262.
SiggersCDRimoinDLDorstJPDotySBWilliamsBRHollisterDWSilberbergRCranleyREKaufmanRLMcKusickVA. The Kniest syndrome. Birth Defects Orig Artic Ser. 1974b;10(9):193–208.
53.
SitoulaPMackenzieWGShahSAThackerMDitroCHolmesLJrCampbellJWRogersKJ. Occipitocervical fusion in skeletal dysplasia: a new surgical technique. Spine (Phila Pa 1976). 2014;39(15):E912–E918.
SprangerJMengerHMundlosSWinterpachtAZabelB. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. Pediatr Radiol. 1994;24(6):431–435.
56.
SprangerJWinterpachtAZabelB. Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. Am J Med Genet. 1997;69(1):79–84.
57.
SubramanianSGamanagattiSSinhaASampangiR. Kniest syndrome. Indian Pediatr. 2007;44(12):931–933.
58.
SugimuraH. Kniest dysplasia accompanied with profound hearing loss: report of a case. Otolaryngol Head Neck Surg (Tokyo). 1994;66(1):111–1116.
59.
TerhalPANievelsteinRJVerverEJTopsakalVvan DommelenPHoornaertKLe MerrerMZanklASimonMESmithsonSFet al.A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 2015;167A(3):461–475.
60.
WadaRSawaiHNishimuraGIsonoKMinagawaKTakenobuTHaradaKTanakaHIshikuraRKomoriS. Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography. J Matern Fetal Neonatal Med. 2011;24(9):1181–1184.
61.
WeisMAWilkinDJKimHJWilcoxWRLachmanRSRimoinDLCohnDHEyreDR. Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. J Biol Chem. 1998;273(8):4761–4768.
62.
WilkinDJArtzASSouthSLachmanRSRimoinDLWilcoxWRMcKusickVAStratakisCAFrancomanoCACohnDH. Small deletions in the type II collagen triple helix produce Kniest dysplasia. Am J Med Genet. 1999;85(2):105–112.
63.
WilkinDJBogaertRLachmanRSRimoinDLEyreDRCohnDH. A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. Hum Mol Genet. 1994;3(11):1999–2003.
64.
WinterpachtAHilbertMSchwarzeUMundlosSSprangerJZabelBU. Kniest and stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet. 1993; 3(4):323–326.
65.
WinterpachtASchwarzeUMundlosSMengerHSprangerJZabelB. Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia. Hum Mol Genet. 1994;3(10):1891–1893.
66.
WinterpachtASuperti-FurgaASchwarzeUStossHSteinmannBSprangerJZabelB. The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. J Med Genet. 1996;33(8):649–654.
67.
WuMLiuLZhouZShengHYinXLiXChengJHuangYCaiYLiCet al.Kniest dysplasia due to mutation of COL2A1 gene. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32(3):323–326.
68.
YaziciZKline-FathBMLaorTTinkleBT. Fetal MR imaging of Kniest dysplasia. Pediatr Radiol. 2010;40(3):348–352.
69.
YokoyamaTNakataniSMurakamiA. A case of Kniest dysplasia with retinal detachment and the mutation analysis. Am J Ophthalmol. 2003;136(6):1186–1188.
