CONTEXT: Several @entity1 with @entity11123 ( @entity11123 ) with multiple imprinting defects found by genetic analysis have been described. However, only two cases have been described with both genetic and clinical signs and symptoms of @entity66 caused by imprinting defects. CASE DESCRIPTION: The @entity1 in this case presented at the age of 6 months with morbid @entity28 (body mass index, +7.5 SDS) and a large umbilical hernia. Genetic analysis showed @entity11123 (hypomethylation of the @entity15045 gene). @entity460 homeostasis was normal, and she had no signs of @entity29257 . At the age of 10 years, she presented with fatigue, and laboratory analyses showed marked @entity3747 with signs of @entity461 resistance, but without evidence for @entity29257 , thus suggesting @entity31601 . Consistent with this diagnosis, methylation analysis of the @entity2163 complex revealed hypomethylation (about 20%) of the @entity2163 exon 1A, @entity31602 , and GNASXL loci and hypermethylation (100% methylation) of the @entity2163 locus. CONCLUSIONS: Imprinting defects at several different loci can occur in some @entity1 , thus causing multiple different diseases. Symptoms of @entity31601 may be absent at diagnosis of @entity11123 , yet prolonged subclinical @entity3747 and/or @entity2265 can have negative consequences (eg, intracerebral calcifications, @entity296 ). We therefore suggest that @entity1 with an imprinting disorder should be monitored for elevations in @entity461 , and epigenetic analysis of the @entity2163 complex locus should be considered.

A @entity1 With XXXX and @entity31601 Due to Multiple Imprinting Defects.

@entity1 :: ('9606', 'Species') :: ['girl', 'patients'] @entity3747 :: ('MESH:D006996', 'Disease') :: ['hypocalcemia'] @entity2163 :: ('2778', 'Gene') :: ['GNAS', 'NESP'] @entity296 :: ('MESH:D009202', 'Disease') :: ['myocardial dysfunction'] @entity66 :: ('MESH:D004194', 'Disease') :: ['multiple diseases'] @entity28 :: ('MESH:D009765', 'Disease') :: ['obesity'] @entity11123 :: ('MESH:D001506', 'Disease') :: ['Beckwith-Wiedemann Syndrome', 'BWS'] @entity29257 :: ('MESH:C537045', 'Disease') :: ['Albright hereditary osteodystrophy'] @entity31601 :: ('MESH:C548075', 'Disease') :: ['pseudohypoparathyroidism type 1B'] @entity2265 :: ('MESH:D054559', 'Disease') :: ['hyperphosphatemia'] @entity461 :: ('5741', 'Gene') :: ['PTH'] @entity460 :: ('MESH:D002118', 'Chemical') :: ['Calcium'] @entity31602 :: ('149775', 'Gene') :: ['NESPAS'] @entity15045 :: ('10984', 'Gene') :: ['KCNQ1OT1']
@entity11123 :: (MESH:D001506,Disease) :: ['Beckwith-Wiedemann Syndrome']
