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*1. Gaffney G, Manning N, Boyd PA, et al: Prenatal sonographic diagnosis of skeletal dysplasias: a report of the diagnostic and prognostic accuracy in 35 cases. Prenat Diagn 1998;18:357-362

*2. Connor JM, Connor RA, Sweet EM, et al: Lethal neonatal chondrodysplasia in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant. Am J Med Genet 1985;22:243-253

*3. Al Gazali LI, Bakir M, Hamid Z, et al: Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population. Birth Defects Part A Clin Mol Teratol 2003;67:125-132

*4. Camera G, Mastroiacov P: Birth prevalence of skeletal dysplasias in the Italian multicentric monitoring system for birth defects. In: Papadatos CJ, Bartosocas CS eds. Skeletal Dysplasias, Alan R. Liss, New York, 1982, p441-444

*5. Superti-Furga A, Unger S: Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 2007;143:1-18

*6. 西村玄:骨系統疾患の分類と画像診断.小児科診療2006;69:1271-1278

*7. Spranger J, Maroteuaux P: The lethal osteochondrodysplasias. Adv Hum Genet 1990;19:1-103

*8. Graf R: The diagnosis of congenital hip-joint dislocation by the ultrasound compound treatment. Arch Orthop Trauma Surg 1980;97:117-133

*9. Filly RA, Golbus MS, Carey JC, et al: Short-limed dwarfism: ultrasonographic diagnosis by mensuration of fetal femoral length. Radiology 1981;138:653-656

*10. Kurtz AB, Needleman L, Wapner RJ, et al: Usefulness of a short femur in the in utero detection of skeletal dysplasias. Radiology 1990;177:197-200

*11. Merz E, Kim-Kern MS, Pehl S: Ultrasonic mensuration of fetal limb bones in the second and third trimesters. J Clin Ultrasound 1987;15:175-183

*12. Romero R, Athanassiadis AP, Jeanty P: Fetal skeletal anomalies. Radiol Clin North Am 1990;28:75-99

*13. Alanay Y, Krakow D, Rimoin DL, et al: Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006). Am J Med Genet Part A 2007;143A:1159-1168

*14. 澤井英明:Personal communication

*15. Pazzaglia UE, Beluffi G: Radiology and histopathology of the bent limbs in campomelic dysplasia: implication in the aetiology of the disease and review of theories. Pediatr Radiol 1987;17:50-55

*16. Brasseur-Daudruy M, Ickowicz V, Degre S, et al: Hyperechoic metaphyses in hypophosphatasia: what does it mean? Pediatr Radiol 2008;38:340-343

*17. Spirt BA, Oliphant M, Gottlieb RH, et al: Prenatal sonographic evaluation of short-limed dwarfism: an algorithmic approach. Radiographics 1990;10:217-236

*18. Meizner I: Fetal skeletal malformations revisited: steps in the diagnostic approach. Ultrasound Obstet Gynecol 1997;10:303-306

*19. Pattarelli P, Pretorius DH, Edwards DK: Intrauterine growth restriction mimicking skeletal dysplasia on antenatal sonography. J Ultrasound Med 1990;9:737-739

*20. Hernandez J, Salas S, Pastor I, et al: Chondrodysplasia punctata associated with Down's syndrome. Presentation of a case and review of the literature. An Esp Pediatr 1988;28:145-147

*21. Kurtz AB, Filly RA, Wapner RJ, et al: In utero analysis of heterozygous achondroplasia: variable time of onset as detected by femur length measurements. J Ultrasound Med 1986;5:137-140

*22. O’Rahilly R: Morphologic patterns in limb deficiencies and duplication. Am J Anat 1951;89:135-193

*23. Wessels MW, Den Hollander NS, Cohen-Overbeek TE, et al: Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez. Am J Med Genet 2002;113:97-100

*24. Stoll C, Langer B, Gasser B, et al: Sporadic case of dyssegmental dysplasia with antenatal presentation. Genet Couns 1998;9:125-30

*25. Guzman ER, Day-Salvatore D, Westover T, et al; Prenatal ultrasonographic demonstration of the trident hand in heterozygous achondroplasia. J Ultrasound Med 1994;13:63-66

*26. 室月淳,荒木慶彦,山下徹,他:Achondrogenesis type IIの1例.山形県病医誌1988;22:101-104

*27. Barnes AM, Chang W, Morello R, et al: Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 2006;355:2757-2764

*28. Cabral WA, Chang W, Barnes AM, et al: Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 2007;39:359-365

*29. Sillence DO, Senn A, Danks DM: Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-116

*30. Senanayake H, Anandakumar C, de Silva MV. : Mid-trimester fracture of femur in a normal fetus. J Obstet Gynecol Res 2003;29:186-188

*31. Angels E, Wellnitz CV, Goodsitt MM, et al: Radiation dose to the fetus for pregnant patients undergoing multidetector CT image: Monte Carlo simulations estimating fetal dose for a range of gestational age and patient size.  Radiologoy 2008;249:220-227

*32. Johnson A, Callan NA, Bhutani VK, et al: Ultrasonic ratio of fetal thoracic to abdominal circumference: an association with fetal pulmonary hypoplasia. Am J Obstet Gynecol 1987;157:764-769

*33. Rahemtullah A, McGillivray B, Wilson RD: Suspected skeletal dysplasia: femur length to abdominal circumference ratio can be used in ultrasonographic prediction of fetal outcome. Am J Obstet Gynecol 1997;177:864-869

*34. 加部一彦,横尾京子,野辺明子編:障害をもつ子を産むということ.19人の体験.東京,中央法規出版,1999

*35. チャールズ・RK・ハインド:いかに”深刻な診断”を伝えるか.誠実なインフォームド・コンセントのために.岡安大仁監訳.高野和也訳.東京,人間と歴史社,2000,p196

*36. 池川志郎:Personal communication

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