Christine M Hall

Summary

Affiliation: Great Ormond Street
Country: UK

Publications

  1. ncbi request reprint Metatropic dysplasia lethal variants
    Christine M Hall
    Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, WCIN 3JH, UK
    Pediatr Radiol 34:66-74. 2004
  2. ncbi request reprint International nosology and classification of constitutional disorders of bone (2001)
    Christine M Hall
    Department of Radiology, Great Ormond Street Children s Hospital, London, United Kingdom
    Am J Med Genet 113:65-77. 2002
  3. ncbi request reprint Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome
    Charulata Deshpande
    Department of Clinical Genetics, Great Ormond Street Hospital, London, UK
    Clin Dysmorphol 15:111-3. 2006
  4. pmc Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance
    Sahar Mansour
    South West Thames Regional Genetics Service, St George s Hospital NHS Trust, London, UK
    Eur J Hum Genet 20:1024-31. 2012
  5. doi request reprint Chondrodysplasia punctata: a clinical diagnostic and radiological review
    Melita D Irving
    Department of Clinical Genetics, Guy s and St Thomas Hospitals Foundation Trust, London, UK
    Clin Dysmorphol 17:229-41. 2008
  6. ncbi request reprint Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy
    Amaka C Offiah
    Department of Radiology, Great Ormond Street Hospital for Children, Great Ormond St, London WC1N 3JH, UK
    AJR Am J Roentgenol 185:522-9. 2005
  7. ncbi request reprint Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?
    Amaka C Offiah
    Department of Radiology, Great Ormond Street Hospital for Children, London, WC1N3JH, UK
    Pediatr Radiol 33:153-61. 2003
  8. ncbi request reprint Paternal uniparental disomy 14: introducing the "coat-hanger" sign
    Amaka C Offiah
    Institute of Child Health, 30 Guilford Street, London, UK
    Pediatr Radiol 33:509-12. 2003
  9. ncbi request reprint Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?
    Muriel Holder-Espinasse
    Service de Genetique Medicale, Hopital Jeanne de Flandre, Lille, France
    Clin Dysmorphol 13:133-5. 2004
  10. doi request reprint Keipert syndrome: two further cases and review of the literature
    Serena Nik-Zainal
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Clin Dysmorphol 17:169-75. 2008

Collaborators

Detail Information

Publications18

  1. ncbi request reprint Metatropic dysplasia lethal variants
    Christine M Hall
    Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, WCIN 3JH, UK
    Pediatr Radiol 34:66-74. 2004
    ..The overlapping features of this group with other dysplasias may cause diagnostic confusion, particularly in perinatal lethal cases...
  2. ncbi request reprint International nosology and classification of constitutional disorders of bone (2001)
    Christine M Hall
    Department of Radiology, Great Ormond Street Children s Hospital, London, United Kingdom
    Am J Med Genet 113:65-77. 2002
    ..For these reasons a further update on the classification is appropriate. It has been expended to not only the osteochondrodysplasias (33 groups) but also genetically determined dysostoses (3 groups)...
  3. ncbi request reprint Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome
    Charulata Deshpande
    Department of Clinical Genetics, Great Ormond Street Hospital, London, UK
    Clin Dysmorphol 15:111-3. 2006
    ..She had megalocornea, hypoplastic optic discs and was partially sighted. Aggressive management of the early respiratory and feeding problems improved survival in this child...
  4. pmc Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance
    Sahar Mansour
    South West Thames Regional Genetics Service, St George s Hospital NHS Trust, London, UK
    Eur J Hum Genet 20:1024-31. 2012
    ..In our cohort, we have observed one instance of sibling recurrence and parental consanguinity in three of the families, indicating that autosomal recessive inheritance is likely...
  5. doi request reprint Chondrodysplasia punctata: a clinical diagnostic and radiological review
    Melita D Irving
    Department of Clinical Genetics, Guy s and St Thomas Hospitals Foundation Trust, London, UK
    Clin Dysmorphol 17:229-41. 2008
    ..An investigative guideline to help determine the exact diagnosis in new cases is also presented...
  6. ncbi request reprint Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy
    Amaka C Offiah
    Department of Radiology, Great Ormond Street Hospital for Children, Great Ormond St, London WC1N 3JH, UK
    AJR Am J Roentgenol 185:522-9. 2005
    ..In particular, we emphasize those features that allow differentiation of CACP syndrome from juvenile idiopathic arthropathy...
  7. ncbi request reprint Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?
    Amaka C Offiah
    Department of Radiology, Great Ormond Street Hospital for Children, London, WC1N3JH, UK
    Pediatr Radiol 33:153-61. 2003
    ..The last meeting was in Oxford in 2001. This article attempts to highlight the differences between the osteochondrodysplasias and the dysostoses, and provides a systematic approach to their radiological diagnosis...
  8. ncbi request reprint Paternal uniparental disomy 14: introducing the "coat-hanger" sign
    Amaka C Offiah
    Institute of Child Health, 30 Guilford Street, London, UK
    Pediatr Radiol 33:509-12. 2003
    ..The patient died after prolonged respiratory failure. This combination of patUPD14 and congenital cutis laxa has not previously been described. Radiology can play a pivotal role in guiding the geneticist's choice of investigation...
  9. ncbi request reprint Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?
    Muriel Holder-Espinasse
    Service de Genetique Medicale, Hopital Jeanne de Flandre, Lille, France
    Clin Dysmorphol 13:133-5. 2004
    ..We report a further patient with a mild form of this condition and persistent inspiratory stridor secondary to laryngeal stenosis. This complication has been reported in previous reports and is certainly an important diagnostic feature...
  10. doi request reprint Keipert syndrome: two further cases and review of the literature
    Serena Nik-Zainal
    Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Clin Dysmorphol 17:169-75. 2008
  11. ncbi request reprint Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance
    Soo Mi Park
    Department of Medical Genetics, Addenbrooke s Hospital NHS Trust, Cambridge, UK
    Am J Med Genet A 143:2024-8. 2007
    ..We therefore suggest that this is a clinically important diagnostic feature of this disorder...
  12. pmc Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
    Andreas Zankl
    Division of Molecular Paediatrics, Lausanne, Switzerland
    Eur J Hum Genet 15:150-4. 2007
    ..We conclude that expert clinical-radiological review can significantly enhance mutation detection rates and should be part of any diagnostic mutation screening protocol for skeletal dysplasias...
  13. ncbi request reprint A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Belgium
    Clin Dysmorphol 15:197-202. 2006
    ..We demonstrate that this dysplasia is due to a glycine to alanine substitution in the COL2A1 gene (p.Gly862Ala), thereby expanding the phenotypic spectrum of dysplasias associated with defects in type II collagen...
  14. ncbi request reprint Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies
    Lyn S Chitty
    Fetal Medicine Unit, University College Obstetric Hospital, London
    Prenat Diagn 26:861-5. 2006
    ..To define the sonographic features of spondyloepiphyseal dysplasia congenita (SEDC) and the double heterozygote for SEDC and achondroplasia...
  15. ncbi request reprint Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patient
    Ian D Young
    Am J Med Genet A 127:218-20. 2004
  16. ncbi request reprint A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)
    Massimiliano Rossi
    Department of Pediatrics, Federico II University, Naples, Italy
    Clin Dysmorphol 14:13-8. 2005
    ..This family contributes to the delineation of the clinical and radiological phenotype of this rare condition...
  17. ncbi request reprint Congenital cardiac disease as a core feature of cranio-osteoarthropathy
    Susan O'Connell
    Our Lady s Hospital for Sick Children, Crumlin, Dublin 12, Ireland
    Clin Dysmorphol 13:213-9. 2004
    ..Moreover, the cases reported here, manifesting significant differences in radiological features, emphasize the variability of radiological findings which can attend this condition...
  18. ncbi request reprint Diagnostic dilemmas in the short rib-polydactyly syndrome group
    Nursel H Elcioglu
    Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey
    Am J Med Genet 111:392-400. 2002
    ....