Literature DB >> 22395727

Neonatal skeletal dysplasias.

Shawn E Parnell1, Grace S Phillips.   

Abstract

Skeletal dysplasias are a large diverse group of disorders characterized by abnormal bone and cartilage growth. Approximately one-quarter of them are considered lethal in the perinatal period. This paper will review the components of the skeletal survey, the primary imaging tool for diagnosing dysplasias postnatally, emphasizing the use of an organized approach and appropriate descriptive terminology. Several illustrative cases of lethal and nonlethal dysplasias will be shown, with additional discussion of commonly associated genetic mutations and classification systems.

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Year:  2012        PMID: 22395727     DOI: 10.1007/s00247-011-2176-2

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


  7 in total

Review 1.  Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?

Authors:  Amaka C Offiah; Christine M Hall
Journal:  Pediatr Radiol       Date:  2002-12-20

Review 2.  The cervical spine in the skeletal dysplasias and associated disorders.

Authors:  R S Lachman
Journal:  Pediatr Radiol       Date:  1997-05

Review 3.  Genetic disorders of the skeleton: a developmental approach.

Authors:  Uwe Kornak; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2003-07-31       Impact factor: 11.025

4.  Ossification of the pubic bones at birth.

Authors:  J CAFFEY; S H MADELL
Journal:  Radiology       Date:  1956-09       Impact factor: 11.105

5.  Instability of the upper cervical spine. Skeletal Dysplasia Group.

Authors: 
Journal:  Arch Dis Child       Date:  1989-02       Impact factor: 3.791

6.  Nosology and classification of genetic skeletal disorders: 2006 revision.

Authors:  Andrea Superti-Furga; Sheila Unger
Journal:  Am J Med Genet A       Date:  2007-01-01       Impact factor: 2.802

7.  Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.

Authors:  Deborah Krakow; Yasemin Alanay; Lauren P Rimoin; Victoria Lin; William R Wilcox; Ralph S Lachman; David L Rimoin
Journal:  Am J Med Genet A       Date:  2008-08-01       Impact factor: 2.802

  7 in total
  2 in total

Review 1.  A review of imaging protocols for suspected skeletal dysplasia and a proposal for standardisation.

Authors:  Sarah G Watson; Alistair D Calder; Amaka C Offiah; Samantha Negus
Journal:  Pediatr Radiol       Date:  2015-06-17

2.  Interactive digital atlas of skeletal surveys for common skeletal dysplasias.

Authors:  Shawn E Parnell; Corey Wall; Edward Weinberger
Journal:  Pediatr Radiol       Date:  2013-03-02
  2 in total

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