Donald School Journal of Ultrasound in Obstetrics and Gynecology

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VOLUME 4 , ISSUE 4 ( October-December, 2010 ) > List of Articles

REVIEW ARTICLE

Fetal Skeletal System

Nikhil Kapoor, Vandana Chaddha

Keywords : Fetus,Short bones,Skeletal dysplasia

Citation Information : Kapoor N, Chaddha V. Fetal Skeletal System. Donald School J Ultrasound Obstet Gynecol 2010; 4 (4):391-403.

DOI: 10.5005/jp-journals-10009-1159

License: CC BY-NC 4.0

Published Online: 01-06-2011

Copyright Statement:  Copyright © 2010; The Author(s).


Abstract

The prevalence of skeletal dysplasias is between 1 and 2000, and 1 and 4000 live births. While here are over 200 skeletal dysplasias approximately four disorders comprise 70% of the total: Achondroplasia, thanatophoric dysplasia, osteogenesis imperfecta, and achondrogenesis. The appropriate identification of lethal skeletal dysplasia is important not only for current pregnancy management, but also for genetic counseling concerning future pregnancies. Detection of skeletal dysplasias is usually possible by prenatal ultrasound, an accurate specific diagnosis is possible by radiologic, pathologic and molecular genetic examination. A total body ultrasound approach should include assessment of the following: Limbs, long bones and extremities, bone mineralization, any joint contractures, joint dislocations, fetal calvarium, spine and thorax.


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  1. The birth prevalence ratios for the skeletal dysplasias. J Med Genet 1986;23(4): 328-32.
  2. Birth prevalence of skeletal dysplasias in the Italian multicentric monitoring system for birth defects. Prog Clin Biol Res 1982;104:441-49.
  3. Mutations in the transmember domain of FGFR3 causes the most common genetic form of dwarfism, achondroplasia. Cell 1994;78(2): 335-42.
  4. Textbook of fetal and perinatal pathology. Oxford: Blackwell Scientific 1991;1176.
  5. Charts of fetal size: 2. Head measurements. Br J Obstet Gynecol 1994;101: 35-43.
  6. Charts of fetal size: 3. Abdominal measurements. Br J Obstet Gynecol 1994;101:125-31.
  7. Charts of fetal size: 4. Femur length. Br J Obstet Gynecol 1994;101:132-35.
  8. Fetal femur length as a predictor of menstrual age: Sonographically measured. AJR Am J Roentgenol 1982;138:875-78.
  9. Fetal size charts for the Italian population. Normative curves of head, abdomen and long bones. Prenat Diagn 2005;25:456-64.
  10. Usefulness of a short femur in the in utero detection of skeletal dysplasia. Radiology 1990;177(1):197-200.
  11. In utero analysis of heterozygous achondroplasia: Variable time of onset as detected by femur length measurements. J Ultrasound Med 1986;5(3):137-40.
  12. The femur length/head circumference relation in obstetric sonography. J Ultrasound Med 1984;3(10):439-42.
  13. Use of femur length/abdominal circumference ratio in detecting the macrosomic fetus. Radiology 1985;154(2):530-05.
  14. Antenatal detection of skeletal dysplasias. J Ultrasound Med 2003;22(3):255-58.
  15. Ultrasonographic prediction of fetal outcome in suspected skeletal dysplasias with use of the femur length-to-abdominal circumference ratio. Am J Obstet Gynecol 1998;179(5):1348-52.
  16. The femur/foot length ratio: A new parameter to assess dysplastic limb reduction. Obstet Gynecol 1988;72(2):181-84.
  17. Ratios between growth parameters for the prenatal ultrasonographic diagnosis of skeletal dysplasias. Eur J Obstet Gynecol Reprod Biol 1990; 34(1-2):37-46.
  18. Fetal echocardiography VI. Assessment of cardiothoracic disproportion: A new technique for the diagnosis of thoracic dysplasia. Am J Obstet Gynecol 1986;155(5):1066-71.
  19. In utero Diagnosis of Skeletal Disorders. An atlas of prenatal sonographic and postnatal radiologic correlation. CRC Press, Inc 1993, Chap 2.
  20. Fetal skeletal anomalies. In: Fleischer A, Manning F, Jeanty P, Romero R (Eds). Sonography in obstetrics and gynecology: principles and practice. New York, NY: McGraw-Hill 2001;445-506.
  21. Antenatal detection of skeletal dysplasias. J Ultrasound Med 2003;22:255-58.
  22. Lethal fetal anomalies. Sonographic demonstration. Radiology 1989;172:1-6.
  23. Mutations in FLNB cause boomerang dysplasia. J Med Genet 2005;42:e43.
  24. Prenatal measurement of cardiothoracic ratio in the evaluation of heart disease. Arch Dis Child 1990;65:20-23.
  25. Prenatal sonographic asessment of fetal thorax: Normal values. Am J Obstet Gynecol 1987;156:1069-74.
  26. Short-limb skeletal dysplasia: Evaluation of the fetal spine with sonography and radiography. Radiology 1990;174(1):177-80.
  27. Thanatophoric dysplasia: An autosomal dominant condition? Am J Med Genet 1988;31:815-20.
  28. Prenatal diagnosis of thanatophoric dysplasia in the second trimester: Ultrasonography and other diagnostic modalities. Arch Gynecol Obstet 2003;269:57-61.
  29. Thanatophoric dysplasia: Ultrasound diagnosis. Ultrasound Q 2001;17:235-43.
  30. Antenatal sonographic diagnosis of thanatophoric dysplasia: A report of three cases and a review of the literature with special emphasis on the differential diagnosis. Ultrasound Obstet Gynecol 1996;8:62-67.
  31. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995;9(3): 321-28.
  32. Long-term survival in typical thanatophoric dysplasia type 1. Am J Med Genet 1997;70:427-36.
  33. Thanatophoric dysplasia: Fetal manifestations and prenatal diagnosis. Am J Med Genet 1984; 22(4):669-83.
  34. Osteogenesis imperfecta. In: Royce PM, Steinman B (Eds). Connective tissue and its heritable disorders. New York, NY: Wiley-Liss 2002;317-50.
  35. Prenatal diagnosis of perinatally lethal osteogenesis imperfecta. Am J Med Genet 1983;14: 353-59.
  36. Simple ultrasonic diagnosis of osteogenesis imperfecta type II in early second trimester. Prenat Diagn 1984;4:235-40.
  37. Achondrogenesis- hypochondrogenesis, the spectrum of chondrogenesis imperfecta: A radiographic, ultrasonographic and histopathologic study of 23 cases. Paediatr Pathol 1988;8:571-97.
  38. Achondrogenesis type I delineation of further heterogeneity and identification of two distinct subgroups. J Pediatr 1988;112: 23-32.
  39. Prenatal ultrasonic diagnosis of shortlimb polydactyly syndrome (SRPS) type III: A case report and a proposed approach to the diagnosis of SRPS and related conditions. J Clin Ultrasound 1985;13(4):84-87.
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