scholarly journals Dermal osteomata as first symptom of Albright’s hereditary osteodystrophy in a 10‐month‐old girl

2020 ◽  
Vol 18 (7) ◽  
pp. 734-736
Author(s):  
Marie‐Luise Schiffmann ◽  
Angelika Dübbers ◽  
Annemarie Minte ◽  
Ana‐Maria Muresan ◽  
Dieter Metze ◽  
...  
Keyword(s):  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy

ALBRIGHT'S HEREDITARY OSTEODYSTROPHY

1980 ◽  
Vol 69 (3) ◽  
pp. 305-309 ◽  
Author(s):  
B. BOSCHERINI ◽  
G. COEN ◽  
G. BIANCHINI ◽  
G. GALLUCCI ◽  
P. BALLANTI ◽  
...  
Keyword(s):  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy

Mutation in the Gene Encoding the Stimulatory G Protein of Adenylate Cyclase in Albright's Hereditary Osteodystrophy

1990 ◽  
Vol 322 (20) ◽  
pp. 1412-1419 ◽  
Author(s):  
Jennifer L. Patten ◽  
Donald R. Johns ◽  
David Valle ◽  
Charles Eil ◽  
Philip A. Gruppuso ◽  
...  
Keyword(s):  
Adenylate Cyclase ◽  
G Protein ◽  
Gene Encoding ◽  
Albright’S Hereditary Osteodystrophy ◽  
Stimulatory G Protein ◽  
Albright's Hereditary Osteodystrophy

scholarly journals Epigenetic Defects ofGNASin Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy

2007 ◽  
Vol 92 (6) ◽  
pp. 2370-2373 ◽  
Author(s):  
Guiomar Pérez de Nanclares ◽  
Eduardo Fernández-Rebollo ◽  
Izortze Santin ◽  
Beatriz García-Cuartero ◽  
Sonia Gaztambide ◽  
...  
Keyword(s):  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy ◽  
Epigenetic Defects

Brachydactyly and Pseudo-Pseudohypoparathyroidism

1968 ◽  
Vol 17 (3) ◽  
pp. 428-438 ◽  
Author(s):  
Keith P. Hertzog
Keyword(s):  
Middle Phalanx ◽  
Albright’S Hereditary Osteodystrophy ◽  
Albright's Hereditary Osteodystrophy ◽  
Epiphyseal Union ◽  
A Current ◽  
Little Finger

SummaryShortened fifth middle phalanges, defined as being less than half the length of the fourth middle phalanx, were found in 12 of 96 Philadelphia Chinese and none of 200 Philadelphia Negro children. At least nine of these can be characterized as having stunted cratered diaphyses, with precocious cone epiphyses, which underwent very early epiphyseal union.The possible extension of a current vascular hypothesis for cone epiphyses, to include inherited osseous variation in this region of the little finger, is discussed.A classification of metacarpal brachydactyly is presented, with the intention of investigating the syndrome of pseudopseudohypoparathyroidism. Reports of cases which have been held to negate the theory that Albright's hereditary osteodystrophy is sex linked were found to have the pattern of phalangeal shortening exhibited by one of the forms of metacarpal brachydactyly. This finding lends support to the contention of others that these reported cases are not pseudo-pseudohypoparathyroidism.

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