[Prenatal diagnosis of camptomelic dysplasia].
A case of antenatal diagnosis of campomelic dwarfism is reported. The diagnosis was established because of polyhydramnios at 37 weeks of amenorrhoea allowing the discovery through ultrasonography of an uretreral dilatation along with dwarfism. The X-Rays of the uterine contents established the diagnosis. The possibility of the antenatal diagnosis is considered before 20 weeks with an ultrasonography where limbs are systematically measured. As recessive autosomic recession is likely, research must above all be undertaken into past records. Amniocentesis at 16 weeks of amenorrhoea would make it possible to establish the diagnosis if the chromosome type is XY with weak amniotic androgens. Often in this type of anomaly it is difficult to differentiate the sexes.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities*; D014463:Ultrasonography
Un diagnostic anténatal de dysplasie campomélique.