Article
Madelung-like deformity in pseudohypoparathyroidism type 1b.
The Journal of clinical endocrinology and metabolism - 1 Sept 2011
Sanchez Janine, Perera Erasmo, Jan de Beur Suzanne, Ding Changlin, Dang Anna, Berkovitz Gary D, Levine Michael A
Abstract excerpt
CONTEXT: Pseudohypoparathyroidism (PHP) types 1a and 1b are distinguished by clinical, biochemical, and molecular features. We report extended kindred with PHP 1b in which many affected members also had growth plate defects, including brachydactyly and a Madelung-like deformity. DESIGN: Analyses included clinical examination, assessment of mineral metabolism, thyroid function, skeletal radiography, and analysis...
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