In utero ultrasonographic features of campomelic dysplasia.
A prenatal diagnosis of campomelic dysplasia in a primigravida is described. First level fetal ultrasonography demonstrated bowing and shortening of lower limbs. Second level examination allowed the correct diagnosis by demonstrating several skeletal anomalies pathognomonic of campomelic dysplasia.
Cordone
M
M
Divisione di Ostetricia e Ginecologia, IRCCS G. Gaslini, Genova, Italy.
Lituania
M
M
Zampatti
C
C
Passamonti
U
U
Magnano
G M
GM
Tomà
P
P
D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis; D007866:Leg / Q000002:abnormalities; D010013:Osteogenesis Imperfecta / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities; D014463:Ultrasonography