Literature DB >> 21337686

Hajdu-Cheney syndrome with severe dural ectasia.

Kristiina Avela1, Leena Valanne, Ilkka Helenius, Outi Mäkitie.   

Abstract

Hajdu-Cheney syndrome (HCS) is an autosomal dominant condition comprising osteolysis of the terminal phalanges, characteristic craniofacial abnormalities, dental anomalies, and proportionate short stature. The clinical and radiological findings develop and progress with age. Here, we report on a HCS patient with severe scoliosis and exceptionally massive dural ectasia. Congenital scoliosis and dural ectasia have not been reported previously in HCS.
Copyright © 2011 Wiley-Liss, Inc.

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Year:  2011        PMID: 21337686     DOI: 10.1002/ajmg.a.33510

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  15 in total

1.  Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

Authors:  Karen W Gripp; Katherine M Robbins; Nara L Sobreira; P Dane Witmer; Lynne M Bird; Kristiina Avela; Outi Makitie; Daniela Alves; Jacob S Hogue; Elaine H Zackai; Kimberly F Doheny; Deborah L Stabley; Katia Sol-Church
Journal:  Am J Med Genet A       Date:  2014-11-13       Impact factor: 2.802

Review 2.  Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations.

Authors:  Ernesto Canalis; Stefano Zanotti
Journal:  Curr Osteoporos Rep       Date:  2016-08       Impact factor: 5.096

Review 3.  Notch Signaling and the Skeleton.

Authors:  Stefano Zanotti; Ernesto Canalis
Journal:  Endocr Rev       Date:  2016-04-13       Impact factor: 19.871

Review 4.  Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders.

Authors:  Ernesto Canalis
Journal:  Metabolism       Date:  2017-08-24       Impact factor: 8.694

5.  An antibody to Notch3 reverses the skeletal phenotype of lateral meningocele syndrome in male mice.

Authors:  Jungeun Yu; Christian W Siebel; Lauren Schilling; Ernesto Canalis
Journal:  J Cell Physiol       Date:  2019-06-12       Impact factor: 6.384

6.  Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption.

Authors:  Ernesto Canalis; Lauren Schilling; Siu-Pok Yee; Sun-Kyeong Lee; Stefano Zanotti
Journal:  J Biol Chem       Date:  2015-12-01       Impact factor: 5.157

7.  An Antibody to Notch2 Reverses the Osteopenic Phenotype of Hajdu-Cheney Mutant Male Mice.

Authors:  Ernesto Canalis; Archana Sanjay; Jungeun Yu; Stefano Zanotti
Journal:  Endocrinology       Date:  2017-04-01       Impact factor: 4.736

8.  Spontaneous intracranial hypotension secondary to congenital spinal dural ectasia and genetic mosaicism for tetrasomy 10p: illustrative case.

Authors:  Peyton L Nisson; Rhona Schreck; John M Graham; Marcel M Maya; Wouter I Schievink
Journal:  J Neurosurg Case Lessons       Date:  2021-08-16

Review 9.  Notch signaling in skeletal health and disease.

Authors:  Stefano Zanotti; Ernesto Canalis
Journal:  Eur J Endocrinol       Date:  2013-05-08       Impact factor: 6.664

10.  The lateral meningocele syndrome mutation causes marked osteopenia in mice.

Authors:  Ernesto Canalis; Jungeun Yu; Lauren Schilling; Siu-Pok Yee; Stefano Zanotti
Journal:  J Biol Chem       Date:  2018-07-24       Impact factor: 5.157

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