ABSTRACT

This atlas is intended to give obstetricians, paediatricians, neonatologists, radiologists, molecular and clinical geneticists and anatomo-pathologists, a thorough insight into conditions (and variants) of skeletal dysplasias. Clinical and imaging findings are properly illustrated, enriched by updated genetic information. This acclaimed text returns in a revised form, with updated material, particularly on the new knowledge surrounding the genetic basis and mechanism for the various skeletal dysplasias. No clinician dealing with fetal or neonatal skeletal diagnosis or treatment will want to be without access to the wealth of illustrations and detail condensed here.

  • Presents a clear and consistent rubric for approaching approximately 150 types of skeletal dysplasias
  • Meets the needs of clinical gynaecologists, obstetricians, paediatricians, radiologists and geneticists
  • Offers an essential, concise resource for the diagnosis of skeletal dysplasias which present prenatally and perinatally

part 1|12 pages

Normal Fetal Skeletal Growth and Development

part 2|22 pages

Diagnosis of Fetal Skeletal Dysplasias

part 3|11 pages

Individual Conditions Grouped According to the International Nosology and Classification of Genetic Skeletal Disorders*

chapter 2|8 pages

Achondroplasia, FGFR3-Related

chapter 3|4 pages

Hypochondroplasia, FGFR3-Related

chapter 7|7 pages

Kniest Dysplasia, COL2A1-Related

chapter 8|6 pages

Stickler Syndrome, COL2A1-Related

chapter 11|3 pages

Achondrogenesis (Type 1B), SLC26A2-Related

chapter 12|3 pages

Atelosteogenesis (Type 2), SLC26A2-Related

chapter 13|6 pages

Diastrophic Dysplasia, SLC26A2-Related

chapter 15|6 pages

Desbuquois Dysplasia, CANT1-Related

chapter 23|5 pages

Larsen Syndrome, FLNB-Related

chapter 25|4 pages

Atelosteogenesis Type 3, FLNB-Related

chapter 26|6 pages

Dyssegmental Dysplasia, HSPG2-Related

chapter 32|7 pages

Short Rib-Thoracic Dysplasia (Jeune)

chapter 37|2 pages

Thoracolaryngopelvic Dysplasia (Barnes)

chapter 41|6 pages

Odontochondrodysplasia, TRIP11-Related

chapter 44|4 pages

SEMD, NANS-Related

chapter 46|4 pages

Achondrogenesis Type 1A, TRIP11-Related

chapter 47|2 pages

Schneckenbecken Dysplasia, SLC35D1-Related

chapter 49|4 pages

Opsismodysplasia, INPPL1-Related

chapter 54|3 pages

Grebe Dysplasia, GDF5- and BMPR1B-Related

chapter 56|5 pages

Brachydactyly Type C, GDF5-Related

chapter 57|2 pages

Catel-Manzke Syndrome, TGDS-Related

chapter 59|2 pages

Brachydactyly Temtamy Type, CHSY1-Related

chapter 61|9 pages

Campomelic Dysplasia, SOX9-Related

chapter 62|2 pages

Stüve-Wiedemann Dysplasia, LFR-Related

chapter 64|6 pages

Bent Bone Dysplasia, FGFR2-Related

chapter 66|5 pages

Osteocraniostenosis, FM111A-Related

chapter 67|5 pages

Hallermann-Streiff Syndrome, GJA1-Related

chapter 69|6 pages

Saul-Wilson Syndrome, COG4-Related

chapter 72|4 pages

Greenberg Dysplasia, LBR-Related

chapter 73|3 pages

Warfarin Embryopathy

chapter 74|4 pages

Maternal Systemic Lupus Erythematosus

chapter 75|4 pages

Cerebro-Hepato-Renal (Zellweger) Syndrome

chapter 76|2 pages

Astley-Kendall Dysplasia

chapter 78|4 pages

Pycnodysostosis, CTSK-Related

chapter 80|5 pages

Raine Dysplasia, FAM20C-Related

chapter 82|5 pages

Caffey Dysplasia (Severe Lethal Variant)

chapter 87|18 pages

Osteogenesis Imperfecta

chapter 88|3 pages

Bruck Syndrome, FKBP10- and PLOD2-Related

chapter 93|3 pages

Blomstrand Dysplasia, PTHR1-Related

chapter 95|4 pages

Marfan Syndrome, FBN1-Related

chapter 96|3 pages

Marshall-Smith Syndrome, NFIX-Related

chapter 97|4 pages

Proteus Syndrome, AKT1-Related

chapter 98|6 pages

Cleidocranial Dysplasia, RUNX2-Related

chapter 100|5 pages

Pfeiffer Syndrome, FGFR1- and FGFR2-Related

chapter 101|4 pages

Apert Syndrome, FGFR2-Related

chapter 103|3 pages

Shprintzen-Goldberg Syndrome, SKI-Related

chapter 104|3 pages

Carpenter Syndrome, RAB23- and MEGF8-Related

chapter 109|4 pages

Diaphanospondylodysostosis, BMPER-Related

chapter 111|5 pages

VATER/VACTERL Association

chapter 112|4 pages

Holt-Oram Syndrome, TBX5- and SALL4-Related

chapter 115|2 pages

Cousin Syndrome, TBX15-Related

chapter 116|3 pages

Roberts Syndrome, ESCO2-Related

chapter 118|4 pages

Gollop-Wolfgang Complex

chapter 119|6 pages

Femoral Facial Syndrome

chapter 120|2 pages

Femur-Fibula-Ulna Syndrome

chapter 121|5 pages

Sirenomelia

chapter 122|3 pages

Fanconi Anaemia

chapter 126|4 pages

Pallister-Hall Syndrome, GLI3-Related

chapter 127|2 pages

Cerebroarthrodigital Syndrome

chapter 128|3 pages

Cerebro-Osseous-Digital Syndrome

chapter 129|3 pages

DK Phocomelia

chapter 130|3 pages

Kaufman-McKusick Syndrome, MKKS-Related

chapter 131|3 pages

Menkes Disease, ATP7A-Related

chapter 133|3 pages

OEIS Complex

chapter 134|4 pages

Schinzel-Giedion Syndrome, SETBP1-Related