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.
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.
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995;9(3): 321-28.
Long-term survival in typical thanatophoric dysplasia type 1. Am J Med Genet 1997;70:427-36.
Thanatophoric dysplasia: Fetal manifestations and prenatal diagnosis. Am J Med Genet 1984; 22(4):669-83.
Osteogenesis imperfecta. In: Royce PM, Steinman B (Eds). Connective tissue and its heritable disorders. New York, NY: Wiley-Liss 2002;317-50.
Prenatal diagnosis of perinatally lethal osteogenesis imperfecta. Am J Med Genet 1983;14: 353-59.
Simple ultrasonic diagnosis of osteogenesis imperfecta type II in early second trimester. Prenat Diagn 1984;4:235-40.
Achondrogenesis- hypochondrogenesis, the spectrum of chondrogenesis imperfecta: A radiographic, ultrasonographic and histopathologic study of 23 cases. Paediatr Pathol 1988;8:571-97.
Achondrogenesis type I delineation of further heterogeneity and identification of two distinct subgroups. J Pediatr 1988;112: 23-32.
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.