ESPEYB15 2 Antenatal and Neonatal Endocrinology International consensus on Beckwith-Wiedemann Syndrome (1 abstracts)
International consensus on Beckwith-Wiedemann Syndrome
Brioude F , Kalish JM , Mussa A , Foster AC , Bliek J , Ferrero GB , Boonen SE , Cole T , Baker R , Bertoletti M , Cocchi G , Coze C , De Pellegrin M , Hussain K , Ibrahim A , Kilby MD , Krajewska-Walasek M , Kratz CP , Ladusans EJ , Lapunzina P , Le Bouc Y , Maas SM , Macdonald F , Õunap K , Peruzzi L , Rossignol S , Russo S , Shipster C , Skórka A , Tatton-Brown , Tenorio J , Tortora C , Grønskov K , Netchine I , Hennekam RC , Prawitt D , Tümer Z , Eggermann T , Mackay DJG , Riccio A & Maher ER
To read the full abstract: Nat Rev Endocrinol. 2018 Apr;14(4):229-249
Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits.
Molecular genetic testing can identify epigenetic and genomic alterations of chromosome 11p15 in individuals with BWS. Detailed molecular diagnosis is a prerequisite for the precise prediction of tumor risk and the tumor spectrum. This is the first comprehensive international consensus guideline published on the clinical diagnosis and management of patients with BWS. The guideline provides 72 recommendations (covering typical BWS and atypical patients) for the clinical and molecular diagnosis of BWS patients. A modified clinical scoring system is now suggested, which represents the basis to initiate molecular diagnostics. Therapeutic and managment recommendations comprise the major clinical questions in both typical and atypical BWS cases. The recommendations discuss the early monitoring of an increased tumor risk, treatment of the macroglossia and the abdominal wall defects, and therapeutic interventions for hypoglycemia. For most of the recommendations there was broad consensus, but on some issues (such as tumour risk monitoring) the consensus was limited. These guidelines and recommendations will need to be re-evaluated in the future once they have been implemented.
Volume 15
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more