Ingravescent Micromelic Dysplasia with Increasing Severity in a Proximo-Distal Gradient
摘要
Grebe syndrome is a bone dysplasia in which there is a progressive greater reduction from the rhizomelic to the acromelic tract. Both upper and lower limbs are affected. Polydactyly is frequent. The head, trunk, and vertebrae are regular. There is no association with mental retardation. Neonatal or infant mortality is high. The diagnosis of certainty is always genetic by searching for the 20q11.2 gene mutation.