Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation.
Prenatal diagnosis of heterozygous achondroplasia at 25 weeks is described. First-level fetal ultrasonography demonstrated short long bones of the lower limbs. Second-level examination showed a large head; shortened femur, fibula, and tibia; a 'trident'-shaped hand; and an abnormal facial profile.
Cordone
M
M
Divisione di Ostetricia e Ginecologia, I.R.C.C.S. G. Gaslini, Genova, Italy.
Lituania
M
M
Bocchino
G
G
Passamonti
U
U
Tomà
P
P
Camera
G
G
D000032:Abortion, Therapeutic; D000130:Achondroplasia / Q000000981:diagnostic imaging* / Q000235:genetics*; D000328:Adult; D000649:Amniocentesis; D001699:Biometry; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006257:Head / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D011247:Pregnancy; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal