Robinow syndrome with growth hormone deficiency: Treatment with growth hormone

We describe a 5 years and nine months old boy who presented with facial fea tures, vertebral anomalies and dwarfism consistent with Robinow syndrome, I nvestigations revealed growth hormone (GH) deficiency to be the cause of hi s dwarfism, We reviewed data on four other patients with Robinow syndrome f rom the Genentech National Cooperative Growth Study (NCGS). Results of GH t esting on three out of four were available and showed GH deficiency. Recomb inant human GH therapy in our patient and the three patients from the NCGS resulted in a significant increase in the growth rate per year. The cause o f dwarfism in children with Robinow syndrome has hitherto not been studied. We propose its association with GH deficiency and that treatment with rhGH can result in a significant increase in the growth rate of these children.