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Progressive sclerosis of skull base

MedGen UID:
331983
Concept ID:
C1835470
Finding
HPO: HP:0005477

Definition

Progressively increasing bone density of the skull base without significant changes in bony contour. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive sclerosis of skull base

Conditions with this feature

Lenz-Majewski hyperostosis syndrome
MedGen UID:
98483
Concept ID:
C0432269
Congenital Abnormality
Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).

Recent clinical studies

Etiology

Urbizu A, Toma C, Poca MA, Sahuquillo J, Cuenca-León E, Cormand B, Macaya A
PLoS One 2013;8(2):e57241. Epub 2013 Feb 21 doi: 10.1371/journal.pone.0057241. PMID: 23437350Free PMC Article
Waldau B, Domeshek LF, Leigh FA, Lum KC, Fuchs HE, Marcus JR, Mukundan S, Grant GA
J Neurosurg Pediatr 2009 Feb;3(2):110-4. doi: 10.3171/2008.10.PEDS08200. PMID: 19278309
Sharma RR, Mahapatra AK, Pawar SJ, Lad SD, Athale SD, Musa MM
J Clin Neurosci 2002 Jul;9(4):381-90. doi: 10.1054/jocn.2002.1056. PMID: 12217666
Jones DN
Clin Radiol 1979 Jan;30(1):87-94. doi: 10.1016/s0009-9260(79)80055-0. PMID: 421429

Diagnosis

Urbizu A, Toma C, Poca MA, Sahuquillo J, Cuenca-León E, Cormand B, Macaya A
PLoS One 2013;8(2):e57241. Epub 2013 Feb 21 doi: 10.1371/journal.pone.0057241. PMID: 23437350Free PMC Article
Shinde SV, Monipanda K
J Postgrad Med 2005 Jul-Sep;51(3):220-2. PMID: 16333198
Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
Am J Med Genet A 2004 Sep 1;129A(3):235-47. doi: 10.1002/ajmg.a.30148. PMID: 15326622
Boltshauser E, Schmitt B, Wichmann W, Valavanis A, Sailer H, Yonekawa Y
Neuroradiology 1996 May;38 Suppl 1:S193-5. doi: 10.1007/BF02278158. PMID: 8811714
Elster AD, Theros EG, Key LL, Chen MY
Radiology 1992 Apr;183(1):137-44. doi: 10.1148/radiology.183.1.1549660. PMID: 1549660

Therapy

Carreau C, Lenglet T, Mosnier I, Lahlou G, Fargeot G, Weiss N, Demeret S, Salachas F, Veauville-Merllié A, Acquaviva C, Nadjar Y
Ann Clin Transl Neurol 2020 Feb;7(2):250-253. Epub 2020 Feb 5 doi: 10.1002/acn3.50977. PMID: 32022482Free PMC Article
Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
Am J Med Genet A 2004 Sep 1;129A(3):235-47. doi: 10.1002/ajmg.a.30148. PMID: 15326622

Prognosis

Waldau B, Domeshek LF, Leigh FA, Lum KC, Fuchs HE, Marcus JR, Mukundan S, Grant GA
J Neurosurg Pediatr 2009 Feb;3(2):110-4. doi: 10.3171/2008.10.PEDS08200. PMID: 19278309
Sharma RR, Mahapatra AK, Pawar SJ, Lad SD, Athale SD, Musa MM
J Clin Neurosci 2002 Jul;9(4):381-90. doi: 10.1054/jocn.2002.1056. PMID: 12217666
De Keyser J, Bruyland M, De Greve J, Leemans J, Potvliege R, Six R, Ebinger G
Clin Neurol Neurosurg 1983;85(1):41-8. doi: 10.1016/0303-8467(83)90022-7. PMID: 6303664

Clinical prediction guides

Borra VM, Waterval JJ, Stokroos RJ, Manni JJ, Van Hul W
Calcif Tissue Int 2013 Jul;93(1):93-100. Epub 2013 May 3 doi: 10.1007/s00223-013-9732-8. PMID: 23640157
Waldau B, Domeshek LF, Leigh FA, Lum KC, Fuchs HE, Marcus JR, Mukundan S, Grant GA
J Neurosurg Pediatr 2009 Feb;3(2):110-4. doi: 10.3171/2008.10.PEDS08200. PMID: 19278309
Elster AD, Theros EG, Key LL, Chen MY
Radiology 1992 Apr;183(1):137-44. doi: 10.1148/radiology.183.1.1549660. PMID: 1549660

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