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

Abstract

SUMMARY A 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.