Fetal and Perinatal Skeletal Dysplasias: An Atlas of Multimodality Imaging

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
	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
	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
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
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
	34. Orofaciodigital Syndrome Type 4, TCTN3-Related
	35. Cranioectodermal Dysplasia (Levin-Sensenbrenner), IFTI22-, WDR35-, WDR19-, IFT40- and IFT43-Related
	36. Meckel Syndrome, TMRM67-, CEP290-, RPGRIP1L-, CC2D2A MKS1-, TMEM216-, NPHP3-, TCTN2-, B9D1-, B9D2-, TMEM231-, KIF14-, TMEM107- and TXNDC15-Related
	37. Thoracolaryngopelvic Dysplasia (Barnes)
Metaphyseal Dysplasias
	38. Cartilage-Hair Hypoplasia/Anauxetic Dysplasia Spectrum, RMRP-Related
	39. Metaphyseal Dysplasia with Pancreatic Insufficiency and Cyclical Neutropenia (Shwachman-Bodian-Diamond Syndrome, SBDS), SBDS-, EFL1-, DNAJC21- and SRP54-Related
	40. Metaphyseal Anadysplasia, MMP13- and MMP9-Related
Spondylometaphyseal Dysplasias (SMDs)
	41. Odontochondrodysplasia, TRIP11-Related
Spondyloepi(Meta)Physeal Dysplasias (SE[M]Ds)
	42. SEMD Short Limb-Abnormal Calcification Type, DDR2-Related
	43. SEMD with Immune Deficiency and Intellectual Disability, EXTL3-Related
	44. SEMD, NANS-Related
	45. Rhizomelic Spondylo-Metaphyseal Dysplasia with Remission, LBR-Related
Severe Spondylodysplastic Dysplasias
	46. Achondrogenesis Type 1A, TRIP11-Related
	47. Schneckenbecken Dysplasia, SLC35D1-Related
	48. Spondylometaphyseal Dysplasia, Sedaghatian Type, GPX4-Related
	49. Opsismodysplasia, INPPL1-Related
Mesomelic AD Rhizo-Melic Dysplasias
	50. Mesomelic Dysplasia, Langer Type (Homozygous Dyschondrosteosis), SHOX-Related
	51. Omodysplasia, Recessive and Dominant Types, GPC6- and FZD2-Related
	52. Robinow Syndrome, Recessive and Dominant Types, ROR2-, NXN-, WNT5A-, DVL1-, DVL3-and FZD2-Related
	53. Mesomelic Dysplasia, Kozlowski-Reardon Type
	54. Grebe Dysplasia, GDF5- and BMPR1B-Related
Brachydactylies (Isolated)
	55. Brachydactyly Type B, ROR2- and NOG-Related
	56. Brachydactyly Type C, GDF5-Related
Brachydactylies as Part of Syndromes
	57. Catel-Manzke Syndrome, TGDS-Related
	58. Rubinstein-Taybi Syndrome, CREBBP- and EP300-Related
	59. Brachydactyly Temtamy Type, CHSY1-Related
	60. Hyperphalangism, Characteristic Facies, Hallux Valgus and Bronchomalacia (Chitayat Syndrome), ERF-Related
Bent Bones Dysplasia Group
	61. Campomelic Dysplasia, SOX9-Related
	62. Stüve-Wiedemann Dysplasia, LFR-Related
	63. Kyphomelic Dysplasia with Facial Dysmorphism, KIF5B-Related and Other Forms
	64. Bent Bone Dysplasia, FGFR2-Related
Primordial Dwarfism and Slender Bones Group
	65. 3M Syndrome, CUL7-, OBSL1- and CCDC9-Related
	66. Osteocraniostenosis, FM111A-Related
	67. Hallermann-Streiff Syndrome, GJA1-Related
	68. Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3, RNU4ATAC-Related
	69. Saul-Wilson Syndrome, COG4-Related
Lysosomal Storage Diseases with Skeletal Involvement
	70. Mucolipidosis II (I-Cell Disease), GNPTAB-Related
Chondrodysplasia Punctata (CDP) Group
	71a. Chondrodysplasia Punctata X-Linked Recessive, Brachytelephalangic Type, ARSE-Related
	71b. Chondrodysplasia Punctata X-Linked Dominant Type, Conradi-Hünermann Type, EBP-Related
	71c. Rhizomelic Type Chondrodysplasia Punctata, PEX7-, DHPAT-, AGP5-, FAR1- and PEX5-Related
	71d. Chondrodysplasia Punctata Tibia-Metacarpal Type
	72. Greenberg Dysplasia, LBR-Related
	73. Warfarin Embryopathy
	74. Maternal Systemic Lupus Erythematosus
	75. Cerebro-Hepato-Renal (Zellweger) Syndrome
	76. Astley-Kendall Dysplasia
Osteopetrosis and Related Osteoclast Disorders
	77. Osteopetrosis, Neonatal or Infantile Forms, TCRG1-, CLCN7- and SNX10-Related: Osteopetrosis, Infantile Formwith Nervous System Involvement, OSTM1-Related
	78. Pycnodysostosis, CTSK-Related
	79. Dysosteosclerosis, SLC29A3-, TNFRSF11A- and CSF1R-Related
Osteosclerotic Disorders
	80. Raine Dysplasia, FAM20C-Related
	81. Caffey Disease (Including Infantile and Attenuated Forms), COL1A1-Related
	82. Caffey Dysplasia (Severe Lethal Variant)
	83. Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
	84. Dysplastic Cortical Hyperostosis, Al-Gazali Type, ADAMTSL2-Related
	85. Osteopathia Striata with Cranial Sclerosis, AMER1-Related
	86. Lenz-Majewski Hyperostotic Dysplasia, PTDSS1-Related
Osteogenesis Imperfecta and Bone Fragility Group
	87. Osteogenesis Imperfecta
	88. Bruck Syndrome, FKBP10- and PLOD2-Related
	89. Osteogenesis Imperfecta with Craniosynostosis (Cole-Carpenter Syndrome), P4HB- and SEC24D-Related
Disorders of Bone Mineralisation
	90. Hypophosphatasia, Perinatal Lethal and Infantile Forms, ALPL-Related
	91. Neonatal Hyperparathyroidism, Severe Form, CASR-Related
Skeletal Disorders of Parathyroid Hormone Signalling Cascade
	92. Metaphyseal Dysplasia, Jansen Type, PTHR1-Related
	93. Blomstrand Dysplasia, PTHR1-Related
Osteolysis Group
	94. Hajdu-Cheyney Syndrome Including Serpentine Fibula Syndrome, NOTCH2-Related
Overgrowth (Tall Stature) Syndromes and Segmental Overgrowth
	95. Marfan Syndrome, FBN1-Related
	96. Marshall-Smith Syndrome, NFIX-Related
	97. Proteus Syndrome, AKT1-Related
Cleidocranial Dysplasia and Related Disorders
	98. Cleidocranial Dysplasia, RUNX2-Related
	99. Yunis-Varon Dysplasia, FIG4- and VAC14-Related
Syndromes Featuring Craniosynostosis
	100. Pfeiffer Syndrome, FGFR1- and FGFR2-Related
	101. Apert Syndrome, FGFR2-Related
	102. Antley-Bixler Syndrome, FGFR2- and POR-Related
	103. Shprintzen-Goldberg Syndrome, SKI-Related
	104. Carpenter Syndrome, RAB23- and MEGF8-Related
Craniofacial Dysostoses
	105. Acrofacial Dysostosis, Nager Type, SF384-Related
	106. Acromelic Frontonasal Dysostosis, ZSW1M6-Related
Vertebral and Costal Dysostoses
	107. Spondylocostal Dysostosis, DLL3-, MESP2-, LFNG-, HES7-, TBX6- and RIPPLY2-Related
	108. Cerebro-Costo-Mandibular Syndrome (Rib Gap Syndrome), SNRPB-Related
	109. Diaphanospondylodysostosis, BMPER-Related
	110. Uniparental Disomy, Paternal, for Chromosome 14 (UPD14; Kagami-Ogata Syndrome)
	111. VATER/VACTERL Association
Limb Hypoplasia – Reduction Defects Group
	112. Holt-Oram Syndrome, TBX5- and SALL4-Related
	113. Cornelia De Lange Syndrome, NIPBL-, SMC1A-, SMC3-, RAD21- and HDAC8-Related
	114. Limb Reduction Syndrome (Al-Awadi Raas-Rothschild Limb-Pelvis Hypoplasia-Aplasia), WNT7A-Related
	115. Cousin Syndrome, TBX15-Related
	116. Roberts Syndrome, ESCO2-Related
	117. Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb (Werner Syndrome), ZRS-Related
	118. Gollop-Wolfgang Complex
	119. Femoral Facial Syndrome
	120. Femur-Fibula-Ulna Syndrome
	121. Sirenomelia
	122. Fanconi Anaemia
Split Hand/Foot with and without Other Manifestations
	123. Split Hand-Foot Malformation (Isolated Form, Types 1–6)
Polydactyly-Syndactyly-Triphalangism Group
	124. Mirror-Image Polydactyly of Hands and Feet (Laurin-Sandrow), SHH-Related
	125. Greig Cephalopolysyndactyly Syndrome, GLI3-Related
	126. Pallister-Hall Syndrome, GLI3-Related
Conditions Not Included in the International Nomenclature (2023)
	127. Cerebroarthrodigital Syndrome
	128. Cerebro-Osseous-Digital Syndrome
	129. DK Phocomelia
	130. Kaufman-McKusick Syndrome, MKKS-Related
	131. Menkes Disease, ATP7A-Related
	132. Multiple Pterygium Syndrome, CHRNG-, CHRNAL- and CHRND-Related
	133. OEIS Complex
	134. Schinzel-Giedion Syndrome, SETBP1-Related
Appendix 1: Fetal Growth Charts and Biometric Measurements for Different Countries
Appendix 2: Gamuts
Index