TY - JOUR T1 - Genetic disorder plus prematurity: a diagnostic challenge JF - Archives of disease in childhood - Education & practice edition JO - Arch Dis Child Educ Pract Ed SP - 252 LP - 253 DO - 10.1136/archdischild-2018-315179 VL - 104 IS - 5 AU - Katherine J Pettinger AU - Lucy McKelvie AU - Kathryn Johnson AU - Andrew Breeze AU - Ian Berry AU - Jennifer Campbell Y1 - 2019/10/01 UR - http://ep.bmj.com/content/104/5/252.abstract N2 - A baby girl was born overnight at 27 weeks’ gestation following spontaneous labour, weighing 940 g. She was the second child of healthy non-consanguineous parents. The fetal medicine team were involved. The 20-week ultrasound findings were:Polyhydramnios.Possible oesophageal atresia.Suspected bilateral cleft lip.Possible ventricular septal defect  (VSD).Bilateral talipes. At birth, the baby had no respiratory effort, but responded well to bag mask inflation breaths. Clinical examination revealed (see figure 1):Figure 1 Photograph of the infant in her incubator, demonstrating bilateral talipes, clenched hands and clinodactyly, smooth philtrum and microstomia with fixed jaw.Fixed bilateral talipes.Clenched hands, clinodactyly.Smooth philtrum.Microstomia with fixed jaw.Her oxygen requirement increased to 100%, despite high-flow nasal … ER -