| Description |
1 online resource (700 p.) |
| Contents |
Cover -- Half Title -- Title Page -- Copyright Page -- Contents -- Preface & Acknowledgements -- Contributors -- Authors -- PART 1: Normal Fetal Skeletal Growth and Development -- PART 2: Diagnosis of Fetal Skeletal Dysplasias -- PART 3: Individual Conditions Grouped According to the International Nosology and Classification of Genetic Skeletal Disorders -- FGFR3 Chondrodysplasias -- 1. Thanatophoric Dysplasia, Types 1 and 2, FGFR3-Related -- 2. Achondroplasia, FGFR3-Related -- 3. Hypochondroplasia, FGFR3-Related -- Type 2 Collagen Disorders |
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4. Achondrogenesis Type 2/Hypochondrogenesis, COL2A1-Related -- 5. Platyspondylic Dysplasia, Torrance Type, COL2A1-Related -- 6. Spondyloepiphyseal Dysplasia Congenita and Spondyloepimetaphyseal Dysplasia (SEMD)Strudwick Type, COL2A1-Related -- 7. Kniest Dysplasia, COL2A1-Related -- 8. Stickler Syndrome, COL2A1-Related -- Type 11 Collagen Disorders -- 9. Fibrochondrogenesis, COL11A1- and COL11A2-Related -- 10. Otospondylomegaepiphyseal Dysplasia, Recessive and Dominant Types, COL11A2-Related -- Sulphation Disorders -- 11. Achondrogenesis (Type 1B), SLC26A2-Related |
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12. Atelosteogenesis (Type 2), SLC26A2-Related -- 13. Diastrophic Dysplasia, SLC26A2-Related -- 14. Chondrodysplasia with Congenital Joint Dislocations (Recessive Larsen Syndrome), CHST3-Related -- Dysplasias with Multiple Joint Dislocations -- 15. Desbuquois Dysplasia, CANT1-Related -- 16. SEMD with Joint Laxity (SEMD-JL, Hall Type), KIF22-Related -- 17. SEMD with Joint Laxity (SEMD-JL, Beighton Type), B3GALT6-Related -- 18. Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphisms and Skeletal Dysplasia,with or without Heart Defects (Pseudodiastrophic Dysplasia), B3GAT3-Related |
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Filamins and Related Disorders -- 19. Frontometaphyseal Dysplasia, FLNA-, MAP3K7- and TAB2-Related -- 20. Melnick-Needles Syndrome (Osteodysplasty), FLNA-Related -- 21. Otopalatodigital Syndrome Type 1, FLNA-Related -- 22. Otopalatodigital Syndrome Type 2, FLNA-Related -- 23. Larsen Syndrome, FLNB-Related -- 24. Atelosteogenesis Type 1 (Includes Boomerang Dysplasia), FLNB-Related -- 25. Atelosteogenesis Type 3, FLNB-Related -- Proteoglycan Core Protein Disorders -- 26. Dyssegmental Dysplasia, HSPG2-Related -- 27. Myotonic Chondrodystrophy (Schwartz-Jampel Syndrome), HSPG2-Related |
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TRPV4 Disorders -- 28. Metatropic Dysplasia, TRVP4-Related (Various Forms) -- Skeletal Disorders Caused by Abnormalities of Cilia or Ciliary Signalling -- 29. Short Rib-Polydactyly Syndrome Type 1 and 3, IFT80-, DYNC2H1-, WDR34-, WDR60- and DYNC2L11-Related -- 30. Short Rib-Polydactyly Syndrome Type 2 (Majewski), NEK1-, DYNC2H1-, IFT81- and IFT154-Related -- 31. Short Rib-Polydactyly Syndrome Type 4 (Beemer), IFT80-Related -- 32. Short Rib-Thoracic Dysplasia (Jeune) -- 33. Chondroectodermal Dysplasia (Ellis-van Creveld), EVC1-, EVC2-, WDR35-, DYNC2LIL-, GLIL- and SMO-Related |
| Summary |
This atlas will give all relevant clinicians a thorough insight into conditions and variants of skeletal dysplasias. Findings are properly illustrated, updated material includes new knowledge on the genetic basis and mechanism |
| Notes |
Description based upon print version of record |
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34. Orofaciodigital Syndrome Type 4, TCTN3-Related |
| Form |
Electronic book
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| Author |
Offiah, Amaka C
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Forzano, Francesca
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Lituania, Mario
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Nishimura
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Cormier-Daire, Valerie
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| ISBN |
9781040005149 |
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1040005144 |
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