[Pseudo-pseudo-hypoparathyroidism (PPH) in a family: rheumatic manifestations in 3 cases, one of which associated with a tricho-rhino-phalangial syndrome (Giedion)].
Three cases of familial pseudo-pseudohypoparathyroidism (PPH) are described. Two patients presented the essential features of this rare syndrome, while the third had the signs of PPH associated with those of tricho-rhino-phalangeal dysplasia (GIEDION). All of our patients had spondylolisthesis of L5 as well as arthrosis of the hips (secondary to coxa plana in two subjects and to coxa vara in one). The phosphocalcic metabolism and determinations of serum immunoreactive parathyroid hormone were normal. The autosomal dominant genetic transmission is in agreement with observations in the literature.
D005260:Female; D006197:Hair; D006227:Hand Deformities, Acquired / Q000209:etiology*; D006621:Hip Joint; D006801:Humans; D008297:Male; D008875:Middle Aged; D009667:Nose Deformities, Acquired / Q000209:etiology; D010003:Osteoarthritis / Q000209:etiology; D010375:Pedigree; D011556:Pseudopseudohypoparathyroidism / Q000150:complications / Q000235:genetics*; D012871:Skin Diseases / Q000150:complications*; D013577:Syndrome
Pseudo-pseudo-hypoparathyroïdisme (PPH) dans une famille: manifestations rhumatis-males dans trois cas dont un associé à un syndrome tricho-rhino-phalangien (Giedion)