Genetic disorder plus prematurity: a diagnostic challenge

Publication Summary

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: 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. Her oxygen requirement increased to 100%, despite high-flow nasal …