2004-05-18-09 Campomelic dysplasia © Dhaifalah www.thefetus.net/
Ishraq Dhaifalah, MD, PhD, Jiri Santavy, MD, Prof.
Department of Medical Genetic and fetal Medicine. University Hospital, Olomouc, Czechoslovakia Republic
A 25-year-old woman G2P1 was referred to our hospital after a routine ultrasound scan at 18 weeks that revealed a discrepancy in the fetal measurements. The gestational age derived from the head measurement was 19 weeks, but it was only 14 weeks when derived from the long bone measurements. The anamnesis of the patient was unremarkable except for a common cold at the beginning of pregnancy without temperature.
Our scan revealed multiple anomalies including significant shortening and bowing of the limbs, short ribs, bilateral talipes equinovarus and chest hypoplasia. Ossification of the bones appeared within normal limits.
The sonographic features were compatible with the diagnosis of campomelic dysplasia, and the decision to terminate the pregnancy was made.
Labor was induced with misoprostol at 20 weeks of gestation. A 250g girl fetus was delivered vaginally. The postnatal appearance revealed a slightly enlarged calvarium, depressed nose with closed eyelids, small thorax, with symmetrical anterior bowing of extremities that is more prominent in the lower once.
Babyscan of the whole body postnatally showed mild bilateral ulnar bowing, and more prominent shortening and bowing of the whole bones of lower extremities. The thorax was hypoplastic, with the ribs demonstrating a horizontal alignment. Both scapulae were hypoplastic. The autopsy finding confirmed the diagnosis.
Babyscan with bell-shaped thorax, mild bilateral lunar bowing, shortening and bowing of the whole bones of lower extremities and hypoplastic scapulae.