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Decreased cranial base ossification

MedGen UID:
331975
Concept ID:
C1835442
Finding
HPO: HP:0005451

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased cranial base ossification

Conditions with this feature

Platyspondylic dysplasia, Torrance type
MedGen UID:
331974
Concept ID:
C1835437
Disease or Syndrome
The Torrance type of platyspondylic lethal skeletal dysplasia (PLSDT) is an autosomal dominant disorder characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondroosseous junction. Though generally lethal in the perinatal period, longer survival has been reported (summary by Zankl et al., 2005).

Recent clinical studies

Etiology

Zhang P, Tong H, Chen Y, Zhou B, Fang L, Zhao Z
J Craniofac Surg 2023 Mar-Apr 01;34(2):551-555. Epub 2022 Oct 31 doi: 10.1097/SCS.0000000000009101. PMID: 36310153
McMillan K, Lloyd M, Evans M, White N, Nishikawa H, Rodrigues D, Sharp M, Noons P, Solanki G, Dover S
J Craniofac Surg 2017 May;28(3):664-669. doi: 10.1097/SCS.0000000000003458. PMID: 28468145
Arponen H, Vuorimies I, Haukka J, Valta H, Waltimo-Sirén J, Mäkitie O
J Neurosurg Pediatr 2015 Mar;15(3):313-20. Epub 2015 Jan 10 doi: 10.3171/2014.11.PEDS14113. PMID: 25559924
Barbagallo GM, Olindo G, Corbino L, Albanese V
Neurosurgery 2009 Jul;65(1):111-19; discussion 119-20. doi: 10.1227/01.NEU.0000346254.07116.31. PMID: 19574832
Figueroa AA, Polley JW, Friede H, Ko EW
Plast Reconstr Surg 2004 Nov;114(6):1382-92; discussion 1393-4. doi: 10.1097/01.prs.0000138593.89303.1b. PMID: 15509923

Diagnosis

McMillan K, Lloyd M, Evans M, White N, Nishikawa H, Rodrigues D, Sharp M, Noons P, Solanki G, Dover S
J Craniofac Surg 2017 May;28(3):664-669. doi: 10.1097/SCS.0000000000003458. PMID: 28468145
Arponen H, Vuorimies I, Haukka J, Valta H, Waltimo-Sirén J, Mäkitie O
J Neurosurg Pediatr 2015 Mar;15(3):313-20. Epub 2015 Jan 10 doi: 10.3171/2014.11.PEDS14113. PMID: 25559924

Therapy

Wan Y, Szabo-Rogers HL
J Bone Miner Res 2021 Dec;36(12):2399-2412. Epub 2021 Sep 28 doi: 10.1002/jbmr.4428. PMID: 34423861
Gibson TL, Grayson BH, McCarthy JG, Shetye PR
J Craniofac Surg 2018 Sep;29(6):1535-1541. doi: 10.1097/SCS.0000000000004608. PMID: 29771833
Arponen H, Vuorimies I, Haukka J, Valta H, Waltimo-Sirén J, Mäkitie O
J Neurosurg Pediatr 2015 Mar;15(3):313-20. Epub 2015 Jan 10 doi: 10.3171/2014.11.PEDS14113. PMID: 25559924
Gunbay T, Akay MC, Aras A, Gomel M
J Oral Maxillofac Surg 2009 Oct;67(10):2254-65. doi: 10.1016/j.joms.2009.04.055. PMID: 19761921

Prognosis

McMillan K, Lloyd M, Evans M, White N, Nishikawa H, Rodrigues D, Sharp M, Noons P, Solanki G, Dover S
J Craniofac Surg 2017 May;28(3):664-669. doi: 10.1097/SCS.0000000000003458. PMID: 28468145
Arponen H, Vuorimies I, Haukka J, Valta H, Waltimo-Sirén J, Mäkitie O
J Neurosurg Pediatr 2015 Mar;15(3):313-20. Epub 2015 Jan 10 doi: 10.3171/2014.11.PEDS14113. PMID: 25559924
Duverger O, Isaac J, Zah A, Hwang J, Berdal A, Lian JB, Morasso MI
J Cell Physiol 2013 Mar;228(3):654-64. doi: 10.1002/jcp.24175. PMID: 22886599Free PMC Article
Barbagallo GM, Olindo G, Corbino L, Albanese V
Neurosurgery 2009 Jul;65(1):111-19; discussion 119-20. doi: 10.1227/01.NEU.0000346254.07116.31. PMID: 19574832
Figueroa AA, Polley JW, Friede H, Ko EW
Plast Reconstr Surg 2004 Nov;114(6):1382-92; discussion 1393-4. doi: 10.1097/01.prs.0000138593.89303.1b. PMID: 15509923

Clinical prediction guides

Park H, Min J, Choi JW, Ra YS
Plast Reconstr Surg 2023 Jun 1;151(6):1275-1284. Epub 2023 Jan 3 doi: 10.1097/PRS.0000000000010164. PMID: 36728579
Wan Y, Szabo-Rogers HL
J Bone Miner Res 2021 Dec;36(12):2399-2412. Epub 2021 Sep 28 doi: 10.1002/jbmr.4428. PMID: 34423861
Barbagallo GM, Olindo G, Corbino L, Albanese V
Neurosurgery 2009 Jul;65(1):111-19; discussion 119-20. doi: 10.1227/01.NEU.0000346254.07116.31. PMID: 19574832
Matsushita T, Wilcox WR, Chan YY, Kawanami A, Bükülmez H, Balmes G, Krejci P, Mekikian PB, Otani K, Yamaura I, Warman ML, Givol D, Murakami S
Hum Mol Genet 2009 Jan 15;18(2):227-40. Epub 2008 Oct 15 doi: 10.1093/hmg/ddn339. PMID: 18923003Free PMC Article
Figueroa AA, Polley JW, Friede H, Ko EW
Plast Reconstr Surg 2004 Nov;114(6):1382-92; discussion 1393-4. doi: 10.1097/01.prs.0000138593.89303.1b. PMID: 15509923

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