Lethal forms of short limb dwarfism.

Grebe syndrome antenatally because of history of previous two siblings affected with the same disorder and by comparing BPD and length of limb bones. In the affected male fetus the BPD was on the 50th percentile, whereas all the other long bones measured were less than 5th percentile(5,6), thus indicating limb reduction anomaly in the fetus. The family history of 2 previously affected sibs was an important pointer for the diagnosis. This only emphasizes the importance of good family history and study of members of family before attempting prenatal diagnosis by ultrasonography. Ultrasonological features noted in our case included shortening of all 4 limbs, lower limb bones shorter than upper limb bones, the severity of shortening increasing distally with short bulbous fingers. The high incidence of premature deaths accounting for 11% of stillbirths and 38% of infant mortality(7) and the extreme disability it produces in an affected individual, may warrant early detection by ultrasound and possibly termination of pregnancy.