A New probably X-Linked Inherited Syndrome:<i>Congenital Muscular Torticollis, Multiple Keloids Cryptorchidism and Renal Dysplasia</i>

Abstract

Summary A kindred is described with a probably new “cervico-dermo-reno-genital syndrome”, comprising a congenital muscular torticollis, multiple spontaneous keloids, cryptorchidism, pyelonephritis and other anomalies. We believe that in this observation a single gene is responsible for the multiple mesodermal and ectodermal defects. Pleiotrophic effects of a single X-linked gene is the most likely possibility for this inborn error of connective tissue. From an extensive review of the literature we may conclude that the nosological association of congenital muscular torticollis, multiple spontaneous keloids and cryptorchidism has thus far never been published. Sex linked or sex limited inheritance for congenital muscular torticollis or multiple keloidosis has not yet been published with certainty. Our observation and the frequent keloidosis in gonadal dysgenesis, may suggest the presence of gene material on the X-chromosome responsible for connective tissue hyperplasia.