[Fetal achondroplasia--antenatal diagnosis of two cases].
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.
Nikolov
A
A
Markov
D
D
Nashar
S
S
D000130:Achondroplasia / Q000000981:diagnostic imaging* / Q000196:embryology*; D000328:Adult; D005260:Female; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D016216:Ultrasonography, Prenatal