Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf
Por um escritor misterioso
Last updated 03 abril 2025

Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by macroglossia, hemihyperplasia, omphalocele, neonatal hypoglycemia, macrosomia, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, kidney abnormalities (e.g., medullary dysplasia, nephrocalcinosis, and medullary sponge kidney), and ear creases / posterior helical ear pits. BWS is considered a clinical spectrum, in which affected individuals may have many or only one or two of the characteristic clinical features. Although most individuals with BWS show rapid growth in late fetal development and early childhood, growth rate usually slows by age seven to eight years. Adult heights are typically within the normal range. Hemihyperplasia (also known as lateralized overgrowth) is often appreciated at birth and may become more or less evident over time. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues. Hemihyperplasia may be limited to one side of the body (ipsilateral) or involve opposite sides of the body (contralateral). Macroglossia is generally present at birth and can obstruct breathing or interfere with feeding in infants. Neonatal hypoglycemia occurs in approximately 50% of infants with BWS; most episodes are mild and transient. However, in some cases, persistent hypoglycemia due to hyperinsulinism may require consultation with an endocrinologist for therapeutic intervention. With respect to the increased risk for embryonal tumor development, the risk for Wilms tumor appears to be concentrated in the first seven years of life, whereas the risk for developing hepatoblastoma is concentrated in the first three to four years of life. Cognitive and neurobehavioral development is usually normal. After childhood, prognosis is generally favorable, although some adults experience issues requiring medical management (e.g., for renal or skeletal concerns).
APC-Associated Polyposis Conditions - GeneReviews® - NCBI

Macroglossia disease: Malacards - Research Articles, Drugs, Genes

Figure 1. [The chromosome 11p15.5 imprinted region

Frontiers Characterization and Childhood Tumor Risk Assessment

Uniparental Disomy of Chromosome 11 disease: Malacards - Research

Cancers, Free Full-Text

Beckwith–Wiedemann syndrome - Wikiwand

Representative cardinal and suggestive features of Beckwith
GeneReviews® - NCBI Bookshelf

Beckwith–Wiedemann and IMAGe syndromes: two very different disea

Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation
Nevoid Basal Cell Carcinoma Syndrome - GeneReviews® - NCBI Bookshelf

Nasal Encephalocele disease: Malacards - Research Articles, Drugs
GeneReviews® - NCBI Bookshelf
Recomendado para você
-
Figure 2. [Broad terminal phalanges (A) and broad, radially deviated thumbs (B)]. - GeneReviews® - NCBI Bookshelf03 abril 2025
-
Robinow Syndrome: Most Up-to-Date Encyclopedia, News & Reviews03 abril 2025
-
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials03 abril 2025
-
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect03 abril 2025
-
genereviews.org - GeneReviews® - NCBI Bookshelf03 abril 2025
-
PDF) The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature03 abril 2025
-
JCM, Free Full-Text03 abril 2025
-
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics03 abril 2025
-
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC03 abril 2025
-
Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update03 abril 2025
você pode gostar
-
Box Pokemon Com Miniatura Tapu Koko - Pokemon - #03 abril 2025
-
Megami no Café Terrace Chapter 17 Discussion - Forums03 abril 2025
-
Demon Slayer Mugen Train: O Filme - O que é notícia em Sergipe03 abril 2025
-
GIF Studio - Apps on Google Play03 abril 2025
-
CoD: Mobile - update v1.0.10 traz modo battle royale 20v20, skin03 abril 2025
-
Ziconomeco 妻 on X: 19. Another (12 episodes) blood gore blood so03 abril 2025
-
Red Dwarf season 11 - Metacritic03 abril 2025
-
Kaiko sareta Ankoku Heishi (30-dai) no Slow na Second Life 39 - NTR-Manga โดจิน มังงะ ติดเรท อัพเดททุกวัน03 abril 2025
-
Gilberto Gil: disco considerado perdido é destaque em mostra do03 abril 2025
-
Opera e Passione at the Arena di Verona - Sonya Yoncheva, soprano » Sonya Yoncheva, soprano03 abril 2025