Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia

Clinical Features

Goeminne (1968) described an apparently novel X-linked trait with incomplete dominance. None of the affected males reproduced. Affected persons included (1) a male with congenital muscular torticollis; (2) a male with torticollis, cryptorchidism and varicose veins; (3) a male with torticollis, many spontaneous keloids, unilateral cryptorchidism, oligospermia, chronic pyelonephritis with unilateral renal atrophy, multiple cutaneous nevi, a basal cell epithelioma and varicose veins; (4) a male with torticollis, keloids and cryptorchidism; (5) a female with torticollis and pigmented nevi; and (6) a female with facial asymmetry, chronic pyelonephritis and nevi.

Fryns and Gevers (2003) stated that since the original report by Goeminne (1968) no similar patients had been reported. They presented similar distinct findings in a 17-year-old male of borderline intelligence who was the first and only child of healthy, unrelated parents. No evidence of genealogic connection between this family and the previously reported family was identified. Major clinical findings were (1) at birth, hypospadias-grade 2 and umbilical hernia; (2) at age 8 years, hyperkyphosis and pectus carinatum with short sternum; (3) at age 15 years, multiple keloids on the dorsum of the hands and forearms; (4) on clinical evaluation at age 17 years, distinct facial features, cutis verticis gyrata, hypogenitalism and peripheral hypogonadism, thin and translucent skin, and varicosities of the lower legs.

Mapping

Zuffardi and Fraccaro (1982) mapped the locus for this syndrome to Xq28, distal to G6PD (305900), based on reports they found in the literature of occurrence in 2 unrelated females with a balanced X-autosome translocation. In mouse-human cell hybrids containing the active der(X) chromosome from 1 of these patients, G6PD was expressed (Hellkuhl et al., 1982). Edwards (1982) pointed out that because of the disruption of genes that are located at the breakpoint on the X chromosome and because of the inactivation of the normal X chromosome in females with balanced X-autosome translocations, useful mapping information is provided by females with X/A translocations. Duchenne muscular dystrophy (310200) and Aicardi syndrome (304050) are disorders mapped by this method, and the Aarskog-Scott syndrome (305400) may be an example.