Die Bedeutung des Spermiogramms beim prim�ren Hodenschaden unter Ber�cksichtigung des einseitig descendierten Hodens

Doepfmer, R

doi:10.1007/bf00522974

Arch. klin. exp. Derm.

1964

DOI: 10.1007/bf00522974

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Die Bedeutung des Spermiogramms beim prim�ren Hodenschaden unter Ber�cksichtigung des einseitig descendierten Hodens

R Doepfmer

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1968

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

Goeminne

1968

Acta genet. med. gemellol.

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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.

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

Goeminne

1968

Acta genet. med. gemellol.

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Die Bedeutung des Spermiogramms beim prim�ren Hodenschaden unter Ber�cksichtigung des einseitig descendierten Hodens

Cited by 1 publication

References 37 publications

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

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

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