Madelung-like deformity in pseudohypoparathyroidism type 1b.

ABSTRACT:

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 of the GNAS and STX16 genes.

Setting

Patients were studied in an academic medical center.

Results

We studied 37 members of a family in which PHP 1b occurred in 23 individuals. Ten of 17 affected patients who were examined had brachydactyly E, including two subjects with Madelung-like defects. Five of 16 subjects had subclinical hypothyroidism; no subject s

SUBMITTER: Sanchez J 

PROVIDER: S-EPMC3167675 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature