Four cases of proximal femoral focal deficiency (PFFD) in an
otherwise healthy infant are described. Antenatal diagnosis was made at 27, 23,
23 and 18 weeks of gestation by routine ultrasound (US) examination. Computer
Tomography (CT) was performed after 30 weeks of gestation and confirmed the
images obtained by US. The diagnosis was confirmed after delivery. These cases
illustrate the importance of combining US and CT to improve accuracy of prenatal
diagnosis of skeletal disorders.
References
[1]
D. E. Westberry and J. R. Davids, “Proximal Focal Femoral Deficiency (PFFD): Management Options and Controversies,” Hip International, Vol. 19, Suppl. 6, 2009, pp. S18-25.
[2]
H. Werner, J. R. Lopes dos Santos, R. Fontes, E. L. Gasparetto, P. A. Daltro, Y. Kuroki and R. C. Domingues, “The Use of Rapid Prototyping Didactic Models in the Study of Fetal Malformations,” Ultrasound in Obstetrics & Gynecology, Vol. 32, No. 7, 2008, pp. 955-958.
doi:10.1002/uog.6253
[3]
M. Cassart, A. Massez, T. Cos, L. Tecco, D. Thomas, N. Van Regemorter and F. Avni, “Contribution of Three-Dimensional Computed Tomography in the Assessment of Fetal Skeletaldysplasia,” Ultrasound in Obstetrics & Gynecology, Vol. 29, No. 3, 2007, pp. 537-543.
doi:10.1002/uog.4001
[4]
C. Hamanashi, “Congenital Short Femur. Clinical, Genetic and Epidemiological Comparison of the Naturally Occurring Condition with That Caused by Thalidomide,” The Journal of Bone & Joint Surgery, Vol. 62, No. 3, 1980, pp. 307-320.
[5]
J. Diaz-Faes and A. I. Cereijo, “Femur Corto Congenito: Frecuencia en el ECEMC, Etiologia y Tratamiento,” Revista Dismorfol Epidemiology , Vol. 3, 1992, pp. 19-28.
[6]
L. F. Goncalves, J. P. Kusanovic, F. Gotsch, J. Espinoza and R. Romero, “The Fetal Musculoskeletal System,” In: W. P. Callen, Ed., Ultrasonography in Obstetrics and Gynecology, 5th Edition, Saunders, New York, 2008, pp 419-492.
[7]
P. Jeanty and G. Kleinman, “Proximal Femoral Focal Deficiency,” Journal of Ultrasound in Medicine, Vol. 8, 1989, pp. 639-642.
[8]
G. T. Aitken, “Proximal Femoral Focal Deficiency-Definition, Classification and Management,” Proximal Femoral Focal Deficiency: A Congenital Anomaly, National Academy of Sciences, Washington DC, 13 June 1968, pp. 1-22.
[9]
M. P. De Pellegrin, W. G. Mackenzie and H. T. Harcke, “Ultrasonographic Evaluation of Hip Morphology in Osteochondrodysplasias,” Journal of Pediatric Orthopaedics, Vol. 20, 2000, pp. 588-593.
doi:10.1097/01241398-200009000-00009
[10]
D. Krakow, R. S. Lachman and D. L. Rimoin, “Guidelines for the Prenatal Diagnosis of Fetal Skeletal Dysplasias,” Genetics in Medicine, Vol. 11, No. 2, 2009, pp. 127-133.
[11]
B. M. Weldner, P. H. Persson and S. A. Ivarsson, “Prenatal Diagnosis of Dwarfism by Ultrasound Screening,” Archives of Disease in Childhood, Vol. 60, No. 11, 1985, pp. 1070-1072. doi:10.1136/adc.60.11.1070
[12]
B. V. Parilla, E. A. Leeth, M. P. Kambich, P. Chilis and S. N. MacGregor, “Antenatal Detection of Skeletal Dysplasias,” Journal of Ultrasound in Medicine, Vol. 22, No. 3, 2003, pp. 255-258.
[13]
I. Y. Gordienko, E. Y. Grechanina, N. I. Sopko, E. N. Tarapurova and L. P. Mikchailets, “Prenatal Diagnosis of Osteochondrodysplasias in High Risk Pregnancy,” American Journal of Medical Genetics, Vol. 63, No. 1, 1996, pp. 90-97.
doi:10.1002/(SICI)1096-8628(19960503)63:1<90::AID-AJMG18>3.0.CO;2-P
[14]
G. Gaffney, N. Manning, P. A. Boyd, V. Rai, S. Gould and P. Chamberlain, “Prenatal Sonografic Diagnosis of Skeletal Dysplasias—A Report of the Diagnosis and Prognostic Accuracy in 35 Cases,” Prenatal Diagnosis, Vol. 18, No. 4, 1998, pp. 357-362.
doi:10.1002/(SICI)1097-0223(199804)18:4<357::AID-PD276>3.0.CO;2-0
[15]
A. E. Tretter, R. C. Saunders, C. M. Meyers, J. S. Dungan, K. Grumbach, C. C. Sun, A. B. Campbell and E. A. Wulfsberg, “Antenatal Diagnosis of Lethal Skeletal Dysplasias,” American Journal of Medical Genetics, Vol. 75, No. 5, 1998, pp. 518-522.
doi:10.1002/(SICI)1096-8628(19980217)75:5<518::AID-AJMG12>3.0.CO;2-N
[16]
J. H. Hersh, B. Angle, M. Pietrantoni, V. D. Cook, J. A. Spinnato, A. L. Clark, J. T. Kurtzman, R. W. Bendon and A. Gerassimides, “Predictive Value of Fetal Ultrasonography in the Diagnosis of a Lethal Skeletal Dysplasia,” Southern Medical Journal, Vol. 91, No. 12, 1998, pp. 1137-1142. doi:10.1097/00007611-199812000-00008
[17]
B. Doray, R. Favre, B. Viville, B. Langer, M. Dreyfus and C. Stoll, “Prenatal Sonographic Diagnosis of Skeletal Dysplasias. A Report of 47 Cases,” Annales de Génétique, Vol. 43, No. 3-4, 2000, pp. 163-169.
doi:10.1016/S0003-3995(00)01026-1
[18]
R. Ruano, M. Molho, J. Roume and Y. Ville, “Prenatal Diagnosis of Skeletal Dysplasias by Combining Two-Dimensional and Three-Dimensional Ultrasound and Three-Dimensional Helical Computer Tomography,” Ultrasound in Obstetrics & Gynecology, Vol. 24, 2004, pp. 134-140. doi:10.1002/uog.1113
