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  1. Article

    Open Access

    Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

    Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments ...

    Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder… in BMC Medical Genomics (2021)

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  2. Article

    Open Access

    The radiologic diagnosis of skeletal dysplasias: past, present and future

    Skeletal dysplasias have been recognised since recorded history began. The advent of radiography at the beginning of the 20th century and the subsequent introduction of departments of radiology have had tremen...

    Amaka C. Offiah, Christine M. Hall in Pediatric Radiology (2020)

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  3. Article

    Open Access

    RETRACTED ARTICLE: Fetal methotrexate syndrome and Antley–Bixler syndrome should not be confused

    C. Richards, Christine M. Hall, D. Johnson, Amaka C. Offiah in Pediatric Radiology (2018)

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  4. No Access

    Article

    Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

    Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-ch...

    Massimiliano Rossi, Christine M. Hall, Raymonde Bouvier… in Pediatric Radiology (2015)

  5. No Access

    Article

    Maternal Depression and Child Psychopathology: A Meta-Analytic Review

    Although the association between maternal depression and adverse child outcomes is well established, the strength of the association, the breadth or specificity of the outcomes, and the role of moderators are ...

    Sherryl H. Goodman, Matthew H. Rouse… in Clinical Child and Family Psychology Review (2011)

  6. No Access

    Article

    Clinical and radiological findings in Schinzel–Giedion syndrome

    The absence of a definitive genetic test for the autosomal recessive condition Schinzel–Giedion syndrome is a significant handicap to the recognition of this disorder. Radiological features have been an import...

    Mudaffer AL-Mudaffer, Christine Oley, Sue Price… in European Journal of Pediatrics (2008)

  7. No Access

    Chapter and Conference Paper

    Using Stem Cells to Repair the Degenerate Retina

    It is conceivable that in the future, stem cells will be used in the treatment of retinal degenerative conditions. They could be transplanted to replace the photoreceptor victims of retinal degeneration or to ...

    Christine M. Hall, Anthony Kicic, Chooi-May Lai… in Retinal Degenerative Diseases (2006)

  8. No Access

    Article

    Skeletal injuries associated with sexual abuse

    Background: Sexual abuse is often associated with physical abuse, the most common injuries being bruising and other soft-tissue injuries, but fractures occur in 5% of sexually abused children. The fractures desc...

    Karl Johnson, Stephen Chapman, Christine M. Hall in Pediatric Radiology (2004)

  9. No Access

    Article

    Metatropic dysplasia lethal variants

    Background: The metatropic dysplasia group includes fibrochondrogenesis, Schneckenbecken dysplasia and metatropic dysplasia (various forms). The overlap** features of this group with ot...

    Christine M. Hall, Nursel H. Elçioglu in Pediatric Radiology (2004)

  10. No Access

    Article

    Paternal uniparental disomy 14: introducing the 'coat-hanger' sign

    Paternal uniparental disomy for chromosome 14 (patUPD14) is a rare condition, this being the eighth report. A male infant, born prematurely, was noted to have extremely lax skin and bilateral inguinal hernias....

    Amaka C. Offiah, Luc Cornette, Christine M. Hall in Pediatric Radiology (2003)

  11. No Access

    Article

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

    Although many constitutional disorders of bone are individually rare, collectively they make up a large group of disorders. They are broadly classified into osteochondrodysplasias and dysostoses. Because of th...

    Amaka C. Offiah, Christine M. Hall in Pediatric Radiology (2003)

  12. No Access

    Chapter and Conference Paper

    Marrow Stromal Cells (MSC): A species Comparison

    Retinal degenerations and dystrophies are the major causes of inherited blindness in the developed world comprising a variety of disparate genetically determined conditions that differ from one another in thei...

    Anthony Kicic, Adam C. Shanley, Christine M. Hall… in Retinal Degenerations (2003)

  13. No Access

    Article

    Non-accidental injury or brittle bones

    When a child presents with one or more unexplained fractures, non-accidental injury (NAI) should be considered in the differential diagnosis. This article reviews some of the other differential diagnoses, part...

    Stephen Chapman, Christine M. Hall in Pediatric Radiology (1997)

  14. No Access

    Article

    Hand anomalies in Crouzon syndrome

     Objective. To review the hand radiographs of patients with Crouzon syndrome, to look for extracranial manifestations of the condition at this site. Design. The hand radiographs of those with Crouzon syndrome att...

    P. J. Anderson, Christine M. Hall, Robert D. Evans, Barry M. Jones… in Skeletal Radiology (1997)

  15. No Access

    Article

    Werner's mesomelic dysplasia with ventricular septal defect and Hirschsprung's disease

    A child with Werner's mesomelic dysplasia is presented. She has five fingers on each hand with absent thumbs and seven toes on each foot. There is posterior dislocation at the knees and mild tibial dysplasia. ...

    Christine M. Hall in Pediatric Radiology (1981)