Literature DB >> 14530887

MR imaging features of craniodiaphyseal dysplasia.

Franklin A Marden1, Franz J Wippold.   

Abstract

We report the magnetic resonance (MR) imaging findings in a 4-year-old girl with characteristic radiographic and computed tomography (CT) features of craniodiaphyseal dysplasia. MR imaging exquisitely depicted cranial nerve compression, small foramen magnum, hydrocephalus, and other intracranial complications of this syndrome. A syrinx of the cervical spinal cord was demonstrated. We suggest that MR imaging become a routine component of the evaluation of these patients.

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Mesh：

Year:  2003        PMID： 14530887     DOI： 10.1007/s00247-003-1037-z

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  8 in total

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Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

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Authors:  D A McHugh; G E Rose; A Garner
Journal:  Br J Ophthalmol       Date:  1994-06       Impact factor: 4.638

5.  Stenosis of the cervical canal in craniodiaphyseal dysplasia.

Authors:  S Naique; V J Laheri
Journal:  J Bone Joint Surg Br       Date:  2001-04

6.  Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia.

Authors:  J D Sinow; J S Gruss; T S Roberts; S K Clarren; C B Graham; W Mouradian
Journal:  Cleft Palate Craniofac J       Date:  1996-07

7.  Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia.

Authors:  B Schaefer; S Stein; D Oshman; O Rennert; G Thurnau; J Wall; J Bodensteiner; O Brown
Journal:  Clin Genet       Date:  1986-11       Impact factor: 4.438

8.  Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management.

Authors:  A Richards; C Brain; M J Dillon; C M Bailey
Journal:  J Laryngol Otol       Date:  1996-04       Impact factor: 1.469
  8 in total
  2 in total

1.  Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Authors:  Su Jin Kim; Tadeusz Bieganski; Young Bae Sohn; Kazimierz Kozlowski; Mikhail Semënov; Nobuhiko Okamoto; Chi Hwa Kim; Ah-Ra Ko; Geung Hwan Ahn; Yoon-La Choi; Sung Won Park; Chang-Seok Ki; Ok-Hwa Kim; Gen Nishimura; Sheila Unger; Andrea Superti-Furga; Dong-Kyu Jin
Journal:  Hum Genet       Date:  2011-01-09       Impact factor: 4.132

2.  Craniovertebral junction stenosis in Lenz-Majewski syndrome.

Authors:  Koichi Mizuguchi; Osamu Miyazaki; Gen Nishimura; Akira Ishigro
Journal:  Pediatr Radiol       Date:  2015-03-17
  2 in total

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