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

Abstract

SummaryA 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.

Keloids – clinical diagnosis, pathogenesis, and treatment options

“…180849) [16, 17, 18] and Goeminne syndrome (OMIM No. 314300) [19]. However, it is important to point out that familial keloids occur only very rarely as part of these syndromes, but are usually found with no association to any other syndromes or clinical abnormalities.…”

Keloids in Rubinstein–Taybi syndrome: a clinical study

“…27 An International Advisory Panel has developed consensus guidelines. 35 The keloid formation starts in infancy, without evidence of preceding trauma, and spreads all over the body. Individuals with dark skin have a 15 times higher chance of developing keloids compared with individuals who have light skin.…”

“…Goeminne syndrome is characterized by marked keloid formation, congenital torticollis, naevi and varicosities starting in early puberty. 35 The keloid formation starts in infancy, without evidence of preceding trauma, and spreads all over the body. Intelligence is normal.…”

Mutational analysis of the human FATE gene in 144 infertile men

“…As SF-1 plays an important role in early gonadal development and sexual differentiation of the testis, we suggested that FATE may be a new target gene of SF-1 in testis differentiation or germ cell development (Olesen et al 2001b). Additionally, FATE maps to Xq28 as does the locus for Goeminne syndrome, which includes male infertility, and a single case of an infertile man with a balanced translocation breakpoint at Xq28 has been reported (Goeminne 1968;Zuffardi and Fraccaro 1982;Quack et al 1988). These data suggest that FATE is a candidate gene for infertility in men.…”