Literature DB >> 6477831

Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child.

D L Roberts, F M Pope, A C Nicholls, P Narcisi.   

Abstract

This case report describes a child in whom non-accidental injury was initially suspected, but who was later shown to have autosomal dominant Ehlers-Danlos syndrome (EDS) type IV. Her mother and brother were also type III collagen deficient. This syndrome may be commoner than the small number of reported cases suggested and may sometimes explain previously undiagnosed easy bruising. The importance of recognizing this syndrome is stressed as it may save a great deal of embarrassment, frustration and anger for the family wrongly suspected of causing injury to their child.

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Year:  1984        PMID: 6477831     DOI: 10.1111/j.1365-2133.1984.tb04733.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


  6 in total

1.  A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.

Authors:  P H Johnson; A J Richards; F M Pope; D A Hopkinson
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 2.  Prenatal diagnosis and prevention of inherited abnormalities of collagen.

Authors:  F M Pope; S C Daw; P Narcisi; A R Richards; A C Nicholls
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study.

Authors:  Mary C Rolfes; David R Deyle; Katherine S King; Jennifer L Hand; Arne H Graff; Chris Derauf
Journal:  Child Abuse Negl       Date:  2019-03-08

4.  Mistakes in diagnosing non-accidental injury: 10 years' experience.

Authors:  D M Wheeler; C J Hobbs
Journal:  Br Med J (Clin Res Ed)       Date:  1988-04-30

5.  Unexplained facial scar: child abuse or ehlers-danlos syndrome?

Authors:  Bahareh Abtahi-Naeini; Javad Shapouri; Mohsen Masjedi; Ali Saffaei; Mohsen Pourazizi
Journal:  N Am J Med Sci       Date:  2014-11

6.  Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect.

Authors:  M F Holick; A Hossein-Nezhad; F Tabatabaei
Journal:  Dermatoendocrinol       Date:  2017-02-16
  6 in total

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