• Endocrine pathology
• endocrinology
• extracellular matrix
• genetics
• growth

After reading the article entitled ‘A170P mutation in SHOX gene in a patient not presenting with Madelung deformity’ in the Journal of Clinical Pathology, I would like to comment on a few important statements and points raised by Álvarez-Mora et al,1 who incidentally identified the SHOX A170P mutation in a 30-year-old woman who belongs to a Spanish gypsy family while looking for the genetic cause of her moderate intellectual disability. In their article, they state that the reported case is the first A170P carrier who did not present the Madelung deformity or any bone dysplasia. The characteristic radiological signs of Leri-Weill dyschondrosteosis (LWD) …