Congenital hypothyroidism has been found in four patients with Klinefelter's syndrome. It is likely that this reflects more than chance concurrence of these conditions.

The acronym PHACE syndrome stands for Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, Eye abnormalities, Sternal clefting and/or a supraumbilical raphe. We report a 20 day old neonate who presented with a large facial hemangioma and Dandy-Walker cyst. This case is unusual because the cyst was detected antenatally and there was ...

Abstract Neonatal screening for congenital primary hypothyroidism (CH) may not distinguish between transient (TCH) and permanent dysfunction (PCH), causing potential overtreatment concerns in affected families. To specify the indication interruption of therapy, we analysed German registry “HypoDok” infants with CH, which oversees 1625 patients from 49 participating centres Germany Austria 1997 ...