Antenatal diagnosis of achondrogenesis. two successive cases in the same family
Boudier, E.; Zurlinden, B.; Cour, A.; Rognon, M.; Devalland-Monnin, C.; Nirhy-Lanto, A.; el Khadissi, H.
Journal de Gynecologie Obstetrique et Biologie de la Reproduction 20(5): 623-626
1991
ISSN/ISBN: 0368-2315 PMID: 1955657 Document Number: 374898
Achondrogenesis is a rare case of fetal skeletal dysplasia. Achondrogenesis in lethal. That is a autosomal recessive fetal skeletal dysplasia. There is a very important dwarfism with extreme micromely, macrocephalia and brevity of chest. The authors enumerate the echographics, radiologics and histologics symptoms of this chondro-dysplasia. The authors comment rapidly the others diagnosis of lethal fetal skeletal dysplasia. Genetic consul is a necessity.