Literature DB >> 9690010

Dysosteosclerosis: clinicoradiologic findings including brain MRI.

R N Sener1, O Yalman, N Cetingul, S Tutuncuoglu, K Kavakli, E E Ustun.   

Abstract

Dysosteosclerosis is a very rare bone dysplasia associated with sclerosis and platyspondyly. This paper reports the clinicoradiologic and MR imaging findings in this rare condition. The primary brain MR imaging finding was retarded white matter matter myelination.

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Year:  1997        PMID： 9690010     DOI： 10.1016/s0895-6111(97)00030-x

Source DB:  PubMed          Journal:  Comput Med Imaging Graph        ISSN： 0895-6111            Impact factor:   4.790


  4 in total

1.  Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

Authors:  Philippe M Campeau; James T Lu; Gautam Sule; Ming-Ming Jiang; Yangjin Bae; Simran Madan; Wolfgang Högler; Nicholas J Shaw; Steven Mumm; Richard A Gibbs; Michael P Whyte; Brendan H Lee
Journal:  Hum Mol Genet       Date:  2012-08-08       Impact factor: 6.150

Review 2.  Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

Authors:  Michael P Whyte; Deborah Wenkert; William H McAlister; Deborah V Novack; Angie R Nenninger; Xiafang Zhang; Margaret Huskey; Steven Mumm
Journal:  J Bone Miner Res       Date:  2010-11       Impact factor: 6.741

3.  Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.

Authors:  Serap Turan; Steven Mumm; Ceren Alavanda; Betul Sare Kaygusuz; Busra Gurpinar Tosun; Ahmet Arman; Margaret Huskey; Tulay Guran; Shenghui Duan; Abdullah Bereket; Michael P Whyte
Journal:  JBMR Plus       Date:  2022-07-28

4.  A case report of dysosteosclerosis observed from the prenatal period.

Authors:  Kisho Kobayashi; Yusuke Goto; Hiroaki Kise; Hiroaki Kanai; Koji Kodera; Gen Nishimura; Kenji Ohyama; Kanji Sugita; Takayuki Komai
Journal:  Clin Pediatr Endocrinol       Date:  2010-08-31
  4 in total

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