Literature DB >> 1605243

Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis.

D Chitayat1, K Silver, E M Azouz.   

Abstract

A girl who presented at 3 months of life with severe developmental delay, blindness, and hearing impairment was found to have intracerebral calcifications. Skeletal films showed craniotubular bone modeling consistent with dysosteosclerosis. The nosology of this disorder is discussed.

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Mesh：

Year:  1992        PMID： 1605243     DOI： 10.1002/ajmg.1320430304

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  6 in total

Review 1.  Autosomal recessive osteopetrosis: diagnosis, management, and outcome.

Authors:  C J Wilson; A Vellodi
Journal:  Arch Dis Child       Date:  2000-11       Impact factor: 3.791

Review 2.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

Review 3.  The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Authors:  J L Tolmie; P Shillito; R Hughes-Benzie; J B Stephenson
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

Review 4.  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

5.  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

6.  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
  6 in total

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