Skeletal dysplasias

Seminars in Fetal and Neonatal Medicine

Volumn 10, Issue 3, 2005, Pages 233-241

  Hurst, Jane A ^a   Firth, Helen V ^b   Smithson, Sarah ^c  

^a OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c ST MICHAEL'S HOSPITAL   (United Kingdom)

Author keywords

Congenital anomalies; Deformity of the limbs; Disproportion; Respiratory distress; Short long bones; Skeletal survey

Indexed keywords

ACHONDROPLASIA; BONE DENSITY; BONE DYSPLASIA; BONE GROWTH; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DIAPHYSIS; EPIPHYSIS; GENETIC PROCEDURES; HUMAN; MEDICAL INFORMATION; MEDICAL PRACTICE; MEDICAL RESEARCH; METAPHYSIS; NEONATOLOGY; NEWBORN PERIOD; PARENT COUNSELING; PREGNANCY; REVIEW;

BONE DISEASES, DEVELOPMENTAL; COUNSELING; DIAGNOSTIC ERRORS; FEMALE; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; PARENTS; PHYSICAL EXAMINATION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 20144375095     PISSN: 1744165X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.siny.2004.12.001     Document Type: Review

References (22)

1. W.A. Horton Skeletal development: insights from targeting the mouse genome Lancet 362 2003 560 569
2. C.M. Hall International nosology and classification of constitutional disorders of bone (2001) Am J Med Genet 113 2002 65 77
3. U. Kornak, and S. Mundlos Genetic disorders of the skeleton: a developmental approach Am J Hum Genet 73 2003 447 474
4. B.V. Parilla, E.A. Leeth, M.P. Kambich, P. Chilis, and S.N. MacGregor Antenatal detection of skeletal dysplasias J Ultrasound Med 22 2003 255 258 quiz 259-261
5. J. Hurst, and R. Wynne-Davies Skeletal dysplasias. Diagnostic Groups. Age of diagnosis and method of prenatal diagnosis Skeletal Dysplasia Group. Occasional Publications No. 5d. Available from 2004 Skeletal Dysplasia Group, Membership Secretary, Department of Clinical Genetics Churchill Hospital, Oxford, OX3 7LJ
6. R. Wynne-Davies, C. Hall, and J. Hurst An approach to the radiological diagnosis of the lethal and other skeletal dysplasias presenting at birth Skeletal Dysplasia Group. Occasional Publications No. 8d. Available from 2004 Skeletal Dysplasia Group, Membership Secretary, Department of Clinical Genetics Churchill Hospital, Oxford, OX3 7LJ
7. H.V. Firth, J.A. Hurst, and J.G. Hall Clinical genetics Oxford Desk Reference Series 2005 Oxford University Press New York
8. M. Pepin, M. Atkinson, B.J. Starman, and P.H. Byers Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies Prenat Diagn 17 1997 559 570
9. N.H. Elcioglu, and C.M. Hall Diagnostic dilemmas in the short rib-polydactyly syndrome group Am J Med Genet 111 2002 392 400
10. R.M. Pauli S.B. Cassidy J.E. Allanson Management of genetic syndromes 2001 Wiley-Liss 9 32
11. J.T. Hecht, C.A. Francomano, W.A. Horton, and J.F. Annegers Mortality in achondroplasia Am J Hum Genet 41 1987 454 464
12. Genetics AAoPCo Health supervision for children with achondroplasia Pediatrics 95 1995 443 451
13. A.G. Hunter, A. Bankier, J.G. Rogers, D. Sillence, and C.I. Scott Jr. Medical complications of achondroplasia: a multicentre patient review J Med Genet 35 1998 705 712
14. G. Mettler, and F.C. Fraser Recurrence risk for sibs of children with 'sporadic' achondroplasia Am J Med Genet 90 2000 250 251
15. A.L. White, P. Modaff, F. Holland-Morris, and R.M. Pauli Natural history of rhizomelic chondrodysplasia punctata Am J Med Genet 118A 2003 332 342
16. J.G. Hall, R.M. Pauli, and K.M. Wilson Maternal and fetal sequelae of anticoagulation during pregnancy Am J Med 68 1980 122 140
17. I.D. Young, N.R. Ruggins, J.M. Somers, J.M. Zuccollo, and N. Rutter Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita J Med Genet 29 1992 831 833
18. S. Unger, J. Korkko, D. Krakow, R.S. Lachman, D.L. Rimoin, and D.H. Cohn Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita Am J Med Genet 104 2001 140 146
19. E. Arikawa-Hirasawa, W.R. Wilcox, and Y. Yamada Dyssegmental dysplasia, Silverman - Handmaker type: unexpected role of perlecan in cartilage development Am J Med Genet 106 2001 254 257
20. A. Superti-Furga, L. Bonafe, and D.L. Rimoin Molecular-pathogenetic classification of genetic disorders of the skeleton Am J Med Genet 106 2001 282 293
21. S. Unger, and J.T. Hecht Pseudoachondroplasia and multiple epiphyseal dysplasia: new etiologic developments Am J Med Genet 106 2001 244 250
22. L. Jia, N.C. Ho, S.S. Park, J. Powell, and C.A. Francomano Comprehensive resource: skeletal gene database Am J Med Genet 106 2001 275 281