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.

No abstract

No abstract

SUMMARYA large kindred (4 generations) with pseudo-pseudo-hypoparathyroidism (PPHP) and the clinical, biological and anthropometric features of this syndrome are extensively described.The association of PPHP with diabetes, hypertension, hypothyroidism, polyarthrosis and peripheral arteritis is very probably significant.Gonadal dysgenesis with brachymetacarpy must clearly be distinguished from PPHP.The transmission of PPHP is probably not sex-linked dominant but autosomal dominant with an incomplete penetrance of about 50%, a varying expressivity and weak familial specificity. Partial sex limiting or sex predominance may occur, instead of true sex-linkage in this condition.

No abstract