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Chondrodysplasia punctata

MedGen UID:
3052
Concept ID:
C0008445
Congenital Abnormality; Disease or Syndrome
Synonyms: Chondrodysplasia Punctata, Unclassified
SNOMED CT: Chondrodysplasia punctata (278715001); Chondrodysplasia punctata (stippled epiphyses) group (278715001); Chondrodysplasia punctata congenita (360507004); Stippled epiphyses (360507004); Chondrodysplasia calcificans (360507004)
 
Orphanet: ORPHA93442

Definition

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. [from NCI]

Recent clinical studies

Etiology

Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. [Epub ahead of print] PMID: 25754886
Ochiai D, Takamura K, Nishimura G, Ikeda T, Yakubo K, Fukuiya T
Congenit Anom (Kyoto) 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003. PMID: 24712475
Lykissas MG, Sturm PF, McClung A, Sucato DJ, Riordan M, Hammerberg KW
J Pediatr Orthop 2013 Oct-Nov;33(7):685-93. doi: 10.1097/BPO.0b013e31829e86a9. PMID: 23836071
Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N
Genet Med 2013 Aug;15(8):650-7. Epub 2013 Mar 7 doi: 10.1038/gim.2013.13. [Epub ahead of print] PMID: 23470839
Jeon GW, Kwon MJ, Lee SJ, Sin JB, Ki CS
Ann Clin Lab Sci 2013 Winter;43(1):70-5. PMID: 23462608

Diagnosis

Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC
Am J Med Genet A 2015 Jun;167(6):1309-14. Epub 2015 Apr 2 doi: 10.1002/ajmg.a.36899. [Epub ahead of print] PMID: 25846959Free PMC Article
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. [Epub ahead of print] PMID: 25754886
Shukla A, Phadke SR
Clin Dysmorphol 2015 Jul;24(3):118-21. doi: 10.1097/MCD.0000000000000076. PMID: 25602717
Ochiai D, Takamura K, Nishimura G, Ikeda T, Yakubo K, Fukuiya T
Congenit Anom (Kyoto) 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003. PMID: 24712475
Lykissas MG, Sturm PF, McClung A, Sucato DJ, Riordan M, Hammerberg KW
J Pediatr Orthop 2013 Oct-Nov;33(7):685-93. doi: 10.1097/BPO.0b013e31829e86a9. PMID: 23836071

Therapy

Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C
Prenat Diagn 2015 Jul;35(7):675-84. Epub 2015 Mar 30 doi: 10.1002/pd.4591. [Epub ahead of print] PMID: 25754886
Vogel TW, Menezes AH
Childs Nerv Syst 2012 Apr;28(4):609-19. Epub 2012 Jan 25 doi: 10.1007/s00381-012-1694-z. [Epub ahead of print] PMID: 22274407
Herman TE, Siegel MJ
J Perinatol 2010 Jun;30(6):437-8. doi: 10.1038/jp.2010.28. PMID: 20508633
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. PMID: 12634559
Sato M, Ishikawa O, Miyachi Y
Dermatology 1996;192(1):23-7. PMID: 8832947

Prognosis

Noguchi M, Honsho M, Abe Y, Toyama R, Niwa H, Sato Y, Ghaedi K, Rahmanifar A, Shafeghati Y, Fujiki Y
J Hum Genet 2014 Jul;59(7):387-92. Epub 2014 May 22 doi: 10.1038/jhg.2014.39. [Epub ahead of print] PMID: 24849933
Lykissas MG, Sturm PF, McClung A, Sucato DJ, Riordan M, Hammerberg KW
J Pediatr Orthop 2013 Oct-Nov;33(7):685-93. doi: 10.1097/BPO.0b013e31829e86a9. PMID: 23836071
Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N
Genet Med 2013 Aug;15(8):650-7. Epub 2013 Mar 7 doi: 10.1038/gim.2013.13. [Epub ahead of print] PMID: 23470839
Dewan P, Rai A, Gupta N, Shah D, Faridi MM
Fetal Pediatr Pathol 2012 Jun;31(3):134-9. Epub 2012 Mar 13 doi: 10.3109/15513815.2012.656826. [Epub ahead of print] PMID: 22413868
Vogel TW, Menezes AH
Childs Nerv Syst 2012 Apr;28(4):609-19. Epub 2012 Jan 25 doi: 10.1007/s00381-012-1694-z. [Epub ahead of print] PMID: 22274407

Clinical prediction guides

Malheiro AR, da Silva TF, Brites P
J Inherit Metab Dis 2015 Jan;38(1):111-21. Epub 2014 Nov 29 doi: 10.1007/s10545-014-9795-3. [Epub ahead of print] PMID: 25432520
Noguchi M, Honsho M, Abe Y, Toyama R, Niwa H, Sato Y, Ghaedi K, Rahmanifar A, Shafeghati Y, Fujiki Y
J Hum Genet 2014 Jul;59(7):387-92. Epub 2014 May 22 doi: 10.1038/jhg.2014.39. [Epub ahead of print] PMID: 24849933
Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT
Orphanet J Rare Dis 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174. [Epub ahead of print] PMID: 24172221Free PMC Article
Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N
Genet Med 2013 Aug;15(8):650-7. Epub 2013 Mar 7 doi: 10.1038/gim.2013.13. [Epub ahead of print] PMID: 23470839
Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N
Hum Mutat 2012 Jan;33(1):189-97. Epub 2011 Oct 31 doi: 10.1002/humu.21623. [Epub ahead of print] PMID: 21990100

Recent systematic reviews

Vogel TW, Menezes AH
Childs Nerv Syst 2012 Apr;28(4):609-19. Epub 2012 Jan 25 doi: 10.1007/s00381-012-1694-z. [Epub ahead of print] PMID: 22274407
White AL, Modaff P, Holland-Morris F, Pauli RM
Am J Med Genet A 2003 May 1;118A(4):332-42. doi: 10.1002/ajmg.a.20009. PMID: 12687664
Wettke-Schäfer R, Kantner G
Hum Genet 1983;64(1):1-23. PMID: 6873941
Silengo MC, Luzzatti L, Silverman FN
J Pediatr 1980 Dec;97(6):911-7. PMID: 7441419
Hall JG, Pauli RM, Wilson KM
Am J Med 1980 Jan;68(1):122-40. PMID: 6985765

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