Abstract Search

ey0016.4-1 | Important for Clinical Practice | ESPEYB16

4.1. Growth hormone improves short-term growth in patients with temple syndrome

DS Brightman , O Lokulo-Sodipe , B Searle , DJG Mackay , JH Davies , IK Temple , A Dauber

To read the full abstract: Horm Res Paediatr. 2018;90:407413.Temple syndrome (TS) is a rare imprinting disorder caused by the dysregulation of imprinted genes in the chromosomal region 14q32 [1]. Most cases (approximately 7080%) are caused by maternal uniparental disomy of chromosome 14. Paternal deletions and primary imprinting defects involving chromosomal region 14q32 can ...

0 shares

ey0015.2-2 | International consensus on Beckwith-Wiedemann Syndrome | ESPEYB15

International consensus on Beckwith-Wiedemann Syndrome

F Brioude , JM Kalish , A Mussa , AC Foster , J Bliek , GB Ferrero , SE Boonen , T Cole , R Baker , M Bertoletti , G Cocchi , C Coze , M De Pellegrin , K Hussain , A Ibrahim , MD Kilby , M Krajewska-Walasek , CP Kratz , EJ Ladusans , P Lapunzina , Y Le Bouc , SM Maas , F Macdonald , K Õunap , L Peruzzi , S Rossignol , S Russo , C Shipster , A Skórka , Tatton-Brown , J Tenorio , C Tortora , K Grønskov , I Netchine , RC Hennekam , D Prawitt , Z Tümer , T Eggermann , DJG Mackay , A Riccio , ER Maher

To read the full abstract: Nat Rev Endocrinol. 2018 Apr;14(4):229-249Beckwith-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 dysplas...

0 shares

ESPE Yearbook of Paediatric Endocrinology

4.1. Growth hormone improves short-term growth in patients with temple syndrome

International consensus on Beckwith-Wiedemann Syndrome

BiosciAbstracts