Albright's Hereditary Poly-Osteochondrodystrophy — (Pseudo-pseudo-hypoparathyroidism with diabetes hypertension, arteritis and polyarthrosis)

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.

Pseudo-Pseudo-Hypoparathyroidism and Basal-Cell Nevus Syndrome

“…An earlier tetany or hypocalcemia could not be proved. This is the fourth description known by us about this syndrome in Belgium, after the previous observations of Nagant de Deuxchaisnes et al (i960), Goeminne (1965), and De Schrijver and V a n Nevel (1968).…”

Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene

“…To our knowledge, this is the first report of Madelung deformity in a patient with a proven GNAS mutation. In an overview of the clinical features of Albright hereditary osteodystrophy, Goeminne [1965] described how a decreased carpal angle with a curved radius and a short ulna can be seen in some patients with this disorder. He stated that these findings represented a mild expression of Madelung deformity.…”