CONTEXT: @entity9474 ( @entity9474 ) types 1a and 1b are distinguished by clinical, biochemical, and molecular features. We report extended kindred with @entity9474 1b in which many affected members also had growth @entity154 , including @entity14883 and a @entity15198 . DESIGN: Analyses included clinical examination, assessment of mineral metabolism, thyroid function, skeletal radiography, and analysis of the @entity2163 and @entity31603 genes. SETTING: @entity1 were studied in an academic medical center. RESULTS: We studied 37 members of a family in which @entity9474 1b occurred in 23 individuals. Ten of 17 affected @entity1 who were examined had @entity14883 E, including two subjects with Madelung-like defects. Five of 16 subjects had @entity1375 ; no subject showed sc ossification or short stature. None of the unaffected members had @entity14883 or an elevated serum level of @entity461 or TSH. Levels of immunoactive erythrocyte Ga(s) were normal in two affected subjects tested. Linkage analysis indicated linkage between @entity461 resistance and the @entity2163 gene locus; however, no mutations were identified in @entity2163 exons 1-13. Methylation analysis of genomic DNA from affected subjects showed loss of maternal epigenotype in exon 1A with normal methylation of the differentially methylated regions for XLGas and NESP55, and PCR demonstrated heterozygosity for a 3.0-kb deletion in the @entity31603 gene. CONCLUSION: The segregation of @entity14883 with @entity9474 1b in this family indicates that an imprinting defect in @entity2163 can lead to growth @entity154 , including @entity14883 and @entity15198 . These features suggest that @entity2163 signaling plays a more extensive role in chondrocyte maturation than previously thought.

XXXX in pseudohypoparathyroidism type 1b.

@entity9474 :: ('MESH:D011547', 'Disease') :: ['PHP', 'Pseudohypoparathyroidism'] @entity154 :: ('MESH:D000013', 'Disease') :: ['plate defects'] @entity2163 :: ('2778', 'Gene') :: ['GNAS'] @entity1 :: ('9606', 'Species') :: ['Patients', 'patients'] @entity1375 :: ('MESH:D007037', 'Disease') :: ['subclinical hypothyroidism'] @entity31603 :: ('8675', 'Gene') :: ['STX16'] @entity15198 :: ('MESH:C562398', 'Disease') :: ['Madelung deformity', 'Madelung-like deformity'] @entity461 :: ('5741', 'Gene') :: ['PTH'] @entity14883 :: ('MESH:D059327', 'Disease') :: ['brachydactyly']
@entity15198 :: (MESH:C562398,Disease) :: ['Madelung-like deformity']
