Case Report: An Infant with Very Short Limbs (Grebe Syndrome)

Abstract

Grebe syndrome is a recessively inherited acromesomelic dysplasia. We studied clinically and radiographically, a 5 months old infant, originated from Tehran, Iran. The phenotype is characterized by a normal axial skeleton and severely shortened and deformed limbs. Upper and lower limbs were very short and in radiography Humerus and femur were relatively normal, the Ulna was absent and a short deformed Radius was seen, also Tibia and Fibula were not seen. Several joints of Carpus, Tarsus, hand, and foot were absent.

Keywords

• Short extremities
• Grebe syndrome
• Infantile malforrmation