Christine M Hall
Affiliation: Great Ormond Street
- Metatropic dysplasia lethal variantsChristine 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...
- 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)...
- Visual impairment and prolonged survival in a girl with Marshall-Smith syndromeCharulata 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...
- Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritanceSahar 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...
- Chondrodysplasia punctata: a clinical diagnostic and radiological reviewMelita 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...
- Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathyAmaka 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...
- 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...
- Paternal uniparental disomy 14: introducing the "coat-hanger" signAmaka 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...
- 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...
- Keipert syndrome: two further cases and review of the literatureSerena Nik-Zainal
Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
Clin Dysmorphol 17:169-75. 2008
- Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritanceSoo 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...
- Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasiaAndreas 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...
- A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 geneGabrielle 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...
- Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnanciesLyn 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...
- Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patientIan D Young
Am J Med Genet A 127:218-20. 2004
- 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...
- Congenital cardiac disease as a core feature of cranio-osteoarthropathySusan 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...
- Diagnostic dilemmas in the short rib-polydactyly syndrome groupNursel H Elcioglu
Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey
Am J Med Genet 111:392-400. 2002....