Prenatal sonographic diagnosis of Grebe syndrome

Grebe syndrome or Grebe-type chondrodysplasia, first described in 2 sisters by Grebe, is an autosomal recessive disorder resulting from abnormal skeletal development of the limbs. The phenotype of this nonlethal chondrodysplasia is characterized by severe acromesomelic dysplasia and dysmorphic distal appendages in the context of normal development of the craniofacial and axial skeleton. Although considered a nonlethal chondrodysplasia, a number of cases of Grebe syndrome results in stillbirth or infant mortality. Children with Grebe syndrome have considerable physical limitations but normal intelligence. Obligate carriers have normal stature and can have a variety of mild skeletal abnormalities, including polydactyly, brachydactyly, and positional abnormalities. Here, we report the prenatal diagnosis of Grebe syndrome based on targeted second-trimester sonography.