Diagnostic ultrasound ( PDFDrive )

1410 PART IV Obstetric and Fetal Sonography
34. Nyberg DA, Souter VL, El-Bastawissi A, et al. Isolated sonographic markers
for detection of fetal Down syndrome in the second trimester of pregnancy.
J Ultrasound Med. 2001;20(10):1053-1063.
35. Spirt BA, Oliphant M, Gottlieb RH, Gordon LP. Prenatal sonographic
evaluation of short-limbed dwarism: an algorithmic approach. Radiographics.
1990;10(2):217-236.
36. Alanay Y, Krakow D, Rimoin DL, Lachman RS. Angulated femurs and the
skeletal dysplasias: experience of the International Skeletal Dysplasia Registry
(1988-2006). Am J Med Genet A. 2007;143A(11):1159-1168.
37. Rouse GA, Filly RA, Toomey F, Grube GL. Short-limb skeletal dysplasias:
evaluation of the fetal spine with sonography and radiography. Radiology.
1990;174(1):177-180.
38. Dugof L, Coin CT, Hobbins JC. Sonographic measurement of the fetal
rib cage perimeter to thoracic circumference ratio: application to prenatal
diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol. 1997;10(4):
269-271.
39. Gindes L, Benoit B, Pretorius DH, Achiron R. Abnormal number of fetal
ribs on 3-dimensional ultrasonography: associated anomalies and outcomes
in 75 fetuses. J Ultrasound Med. 2008;27(9):1263-1271.
40. Quarello E, Roume J, Molho M, et al. Twins discordant for fetal skeletal
abnormalities: a natural confrontation between the two siblings. Prenat
Diagn. 2008;28(1):21-27.
41. Rustico MA, Baietti MG, Coviello D, et al. Managing twins discordant for
fetal anomaly. Prenat Diagn. 2005;25(9):766-771.
42. Dall’Asta A, Paramasivam G, Lees CC. Crystal Vue technique for imaging
of the fetal spine and ribs. Ultrasound Obstet Gynecol. 2015.
43. Ruano R, Molho M, Roume J, Ville Y. Prenatal diagnosis of fetal skeletal
dysplasias by combining two-dimensional and three-dimensional ultrasound
and intrauterine three-dimensional helical computer tomography. Ultrasound
Obstet Gynecol. 2004;24(2):134-140.
44. Xu HX, Zhang QP, Lu MD, Xiao XT. Comparison of two-dimensional and
three-dimensional sonography in evaluating fetal malformations. J Clin
Ultrasound. 2002;30(9):515-525.
45. Benoit B, Hafner T, Kurjak A, et al. hree-dimensional sonoembryology.
J Perinat Med. 2002;30(1):63-73.
46. Benacerraf BR. hree-dimensional fetal sonography: use and misuse.
J Ultrasound Med. 2002;21(10):1063-1067.
47. Cassart M, Massez A, Cos T, et al. Contribution of three-dimensional
computed tomography in the assessment of fetal skeletal dysplasia. Ultrasound
Obstet Gynecol. 2007;29(5):537-543.
48. Tani C, Funama Y, Fujioka C, et al. Radiation dose reduction at MDCT
with iterative reconstruction for prenatal diagnosis of skeletal dysplasia:
preliminary study using normal fetal specimens. Am J Roentgenol.
2014;203(6):1249-1256.
49. Nagayama M, Watanabe Y, Okumura A, et al. Fast MR imaging in obstetrics.
Radiographics. 2002;22(3):563-580.
50. Arthurs OJ, hayyil S, Addison S, et al. Diagnostic accuracy of postmortem
MRI for musculoskeletal abnormalities in fetuses and children. Prenat Diagn.
2014;34(13):1254-1261.
51. Lemyre E, Azouz EM, Teebi AS, et al. Bone dysplasia series. Achondroplasia,
hypochondroplasia and thanatophoric dysplasia: review and update. Can
Assoc Radiol J. 1999;50(3):185-197.
52. Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis
of fetal skeletal dysplasias. Genet Med. 2009;11(2):127-133.
53. Nelson DB, Dashe JS, McIntire DD, Twickler DM. Fetal skeletal dysplasias:
sonographic indices associated with adverse outcomes. J Ultrasound Med.
2014;33(6):1085-1090.
54. Yoshimura S, Masuzaki H, Gotoh H, et al. Ultrasonographic prediction of
lethal pulmonary hypoplasia: comparison of eight diferent ultrasonographic
parameters. Am J Obstet Gynecol. 1996;175(2):477-483.
55. Kallen B, Knudsen LB, Mutchinick O, et al. Monitoring dominant germ
cell mutations using skeletal dysplasias registered in malformation registries:
an international feasibility study. Int J Epidemiol. 1993;22(1):107-115.
56. Langer Jr LO, Yang SS, Hall JG, et al. hanatophoric dysplasia and cloverleaf
skull. Am J Med Genet Suppl. 1987;3:167-179.
57. Chen CP, Chern SR, Shih JC, et al. Prenatal diagnosis and genetic analysis
of type I and type II thanatophoric dysplasia. Prenat Diagn. 2001;21(2):
89-95.
58. Vajo Z, Francomano CA, Wilkin DJ. he molecular and genetic basis of
ibroblast growth factor receptor 3 disorders: the achondroplasia family of
skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with
acanthosis nigricans. Endocr Rev. 2000;21(1):23-39.
59. Bellus GA, Bamshad MJ, Przylepa KA, et al. Severe achondroplasia with
developmental delay and acanthosis nigricans (SADDAN): phenotypic
analysis of a new skeletal dysplasia caused by a Lys650Met mutation in
ibroblast growth factor receptor 3. Am J Med Genet. 1999;85(1):53-65.
60. Tavormina PL, Shiang R, hompson LM, et al. hanatophoric dysplasia
(types I and II) caused by distinct mutations in ibroblast growth factor
receptor 3. Nat Genet. 1995;9(3):321-328.
61. Wang DC, Shannon P, Toi A, et al. Temporal lobe dysplasia: a characteristic
sonographic inding in thanatophoric dysplasia. Ultrasound Obstet Gynecol.
2014;44(5):588-594.
62. Blaas HG, Vogt C, Eik-Nes SH. Abnormal gyration of the temporal lobe
and megalencephaly are typical features of thanatophoric dysplasia and
can be visualized prenatally by ultrasound. Ultrasound Obstet Gynecol.
2012;40(2):230-234.
63. Pugash D, Lehman AM, Langlois S. Prenatal ultrasound and MRI indings
of temporal and occipital lobe dysplasia in a twin with achondroplasia.
Ultrasound Obstet Gynecol. 2014;44(3):365-368.
64. Taybi H, Lachman RS, Taybi H. Radiology of syndromes, metabolic disorders,
and skeletal dysplasias. 3rd ed. Chicago: Year Book Medical Publishers;
1990.
65. Hall CM. International nosology and classiication of constitutional disorders
of bone (2001). Am J Med Genet. 2002;113(1):65-77.
66. DiMaio MS, Barth R, Koprivnikar KE, et al. First-trimester prenatal diagnosis
of osteogenesis imperfecta type II by DNA analysis and sonography. Prenat
Diagn. 1993;13(7):589-596.
67. Latini G, De Felice C, Parrini S, et al. Polyhydramnios: a predictor of severe
growth impairment in achondroplasia. J Pediatr. 2002;141(2):274-276.
68. Minillo RM, Sobreira N, de Faria Soares Mde F, et al. Novel deletion of
SERPINF1 causes autosomal recessive osteogenesis imperfecta type VI in
two Brazilian families. Mol Syndromol. 2014;5(6):268-275.
69. Marini JC, Blissett AR. New genes in bone development: what’s new in
osteogenesis imperfecta. J Clin Endocrinol Metab. 2013;98(8):3095-3103.
70. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis
imperfecta. J Med Genet. 1979;16(2):101-116.
71. Sillence DO, Barlow KK, Garber AP, et al. Osteogenesis imperfecta type II
delineation of the phenotype with reference to genetic heterogeneity. Am
J Med Genet. 1984;17(2):407-423.
72. Munoz C, Filly RA, Golbus MS. Osteogenesis imperfecta type II: prenatal
sonographic diagnosis. Radiology. 1990;174(1):181-185.
73. Meizner I, Bar-Ziv J. In utero diagnosis of skeletal disorders: an atlas of
prenatal sonographic and postnatal radiologic correlation. Boca Raton, Fla:
CRC Press; 1993.
74. Bowerman RA. Anomalies of the fetal skeleton: sonographic indings. Am
J Roentgenol. 1995;164(4):973-979.
75. Kwok C, Weller PA, Guioli S, et al. Mutations in SOX9, the gene responsible
for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet.
1995;57(5):1028-1036.
76. Wu MH, Kuo PL, Lin SJ. Prenatal diagnosis of recurrence of short ribpolydactyly
syndrome. Am J Med Genet. 1995;55(3):279-284.
77. Whitley CB, Langer Jr LO, Ophoven J, et al. Fibrochondrogenesis: lethal,
autosomal recessive chondrodysplasia with distinctive cartilage histopathology.
Am J Med Genet. 1984;19(2):265-275.
78. Kulkarni ML, Matadh PS, Praveen Prabhu SP, Kulkarni PM. Fibrochondrogenesis.
Indian J Pediatr. 2005;72(4):355-357.
79. 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(3):137-140.
80. Patel MD, Filly RA. Homozygous achondroplasia: US distinction between
homozygous, heterozygous, and unafected fetuses in the second trimester.
Radiology. 1995;196(2):541-545.
81. Hastbacka J, Superti-Furga A, Wilcox WR, et al. Atelosteogenesis type II
is caused by mutations in the diastrophic dysplasia sulfate-transporter gene
(DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Am J Hum Genet. 1996;58(2):255-262.