Fetal achondroplasia--antenatal diagnosis of two cases
Nikolov, A.; Markov, D.; Nashar, S.
Akusherstvo i Ginekologiia 47(4): 40-43
2008
ISSN/ISBN: 0324-0959 PMID: 19227764 Document Number: 620094
Achondroplasia is a rare autosomal dominant skeletal dysplasia associated with rhizomelic micromelia and facial dysmorphism. Prenatal diagnosis of achondroplasia is possible after 20 weeks of gestation when its main characteristic features can be easily recognized on ultrasound. We present two cases of achondroplasia diagnosed in the second trimester of pregnancy.
Document emailed within 1 workday
Related Documents
Dumez, Y.; Nathan, C.; Henrion, R. 1984: Antenatal diagnosis and fetal surgery La Revue du Praticien 34(59): 3345-3349Liban, E.; Salzberger, M. 1976: A prospective clinicopathological study of 1,108 cases of antenatal fetal death Israel Journal of Medical Sciences 12(1): 34-44
Muñoz, H.; Loureiro, O.; Brugere, S.; Hasbún, J.; Walton, R.; Hernández, I.; Oyarzún, R.; Palominos, G.; Polanco, M.; Parra, M. 1992: Fetal echocardiography. III. the antenatal diagnosis of structural and rhythm changes Revista Chilena de Obstetricia y Ginecologia 57(1): 16-21; Discussion: 21-22
Aĭlamazian, E.K. 1998: Cordocentesis in antenatal diagnosis, therapy and surgery for fetal diseases Vestnik Rossiiskoi Akademii Meditsinskikh Nauk 1998(1): 6-11
Ouerhani, R.; Allegui, D.; Skhiri, A.; Said, C.; Ayadi, S.; Triki, A.; Gara, M.F. 2006: Fetal cystic hygroma antenatal diagnosis. Prognosis and management La Tunisie Medicale 84(1): 58-60
Khadzhiev, A.; Simeonov, E.; Likharska, K.; Varon, R.; Krachunova, M. 1986: Antenatal diagnosis of fetal genetic damages (a review of the results of the 1st 150 early transabdominal amniocenteses) Akusherstvo i Ginekologiia 25(2): 81-85
Mastronardi, R.; Presicci, V.; Ciasca, G. 1987: Echographic diagnosis of fetal hydrops and ascites. Description of 2 cases of fetal hydrops and ascites caused by congenital immunodeficiency and feto-fetal transfusion syndrome. Etio-pathogenic considerations Minerva Ginecologica 39(5): 337-341
Stoĭkov, S. 1992: A program for the antenatal diagnosis and management of fetal retardation at the Obstetrical-Gynecological Clinic of the Medical University of Pleven (preliminary report) Akusherstvo i Ginekologiia 31(2): 11-13
Genuis, S.; Genuis, S.K.; Chang, W.C. 1996: Antenatal fetal heart rate and "maternal intuition" as predictors of fetal sex Journal of Reproductive Medicine 41(6): 447-449
Boudier, E.; Zurlinden, B.; Cour, A.; Rognon, M.; Devalland-Monnin, C.; Nirhy-Lanto, A.; el Khadissi, H. 1991: Antenatal diagnosis of achondrogenesis. two successive cases in the same family Journal de Gynecologie Obstetrique et Biologie de la Reproduction 20(5): 623-626
Oueslati, S.; Louati, H.; Dhiab, R.; Kchaou, S.; Masmoudi, A.; Fkih, C.; Nsiri, J.; Gaigi, S.; Zineb, N.B.; Chaabane, M. 2007: Antenatal diagnosis of multicystic renal dysplsia. Report of 11 cases La Tunisie Medicale 85(5): 389-392
Peng, H.C.; Chen, H.C.; Chang, W.T.; Chou, M.M.; Hsieh, W.K. 1996: Antenatal diagnosis and early surgery for choledochal cyst: a report of two cases Zhonghua Yi Xue Za Zhi 57(1): 79-83
DeVore, G.R.; Mahoney, M.J.; Hobbins, J.C. 1980: Antenatal diagnosis of haemoglobinopathies, haemophilia, von Willebrand's disease, Duchenne's muscular dystrophy, and chronic granulomatous disease by fetal blood analysis Clinics in Obstetrics and Gynaecology 7(1): 41-72
Rocco, V.; Aliberti, B. 1988: Prenatal diagnosis of some cases of malformative fetal diseases Minerva Ginecologica 40(11): 661-664
Borg, G.; Gardella, C.; Charvet, F.; Thoulon, J.M. 1984: Diagnosis and treatment of fetal supraventricular tachycardia. Apropos of 2 cases Revue Francaise de Gynecologie et d'Obstetrique 79(2): 141-144
Meizner, I.; Katz, M.; Carmi, R.; Insler, V. 1989: Prenatal ultrasonic diagnosis of cystic hygroma associated with fetal hydrops--report of two cases Israel Journal of Medical Sciences 25(1): 51-53
Agnifili, A.; Carducci, A.; Biasini, G.; Gola, P.; Marino, M.; Verzaro, R.; Carducci, G.; Mancini, E.; Rizzo, F.M. 1997: Fetal biliary lithiasis: ultrasonographic diagnosis and clinical interpretation. Report of 3 cases La Radiologia Medica 93(4): 401-404
Kjer, J.J.; Aagesen, L. 1984: Antenatal fetal death Ugeskrift for Laeger 146(35): 2623-2626
Armentano, G.; Dodero, P.; Natta, A.; Magillo, P.; Sugliano, G.C. 1998: Fetal ovarian cysts: prenatal diagnosis and management. Report of two cases and review of literature Clinical and Experimental Obstetrics and Gynecology 25(3): 88-91
Suwanrath, C.; Suntharasaj, T.; Leetanaporn, R.; Mitarnun, W. 2001: Prenatal diagnosis of fetal bladder outlet obstruction at Songklanagarind Hospital: report of 5 cases Journal of the Medical Association of Thailand 84(9): 1365-1371