SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.

Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19 weeks gestation. Other foetal growth parameters were normal.

Electronic fetal heart rate monitoring.

Electronic fetal heart rate monitoring is a useful monitoring tool to assess intrapartum fetal wellbeing and has been shown to improve perinatal outcomes in at-risk fetuses. This article describes the benefits, criticisms of its use during labour, the pathophysiology and care pathway based on the cardiotocogram features.