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Genetic disorder plus prematurity: a diagnostic challenge
  1. Katherine J Pettinger1,
  2. Lucy McKelvie1,
  3. Kathryn Johnson1,
  4. Andrew Breeze2,
  5. Ian Berry3,
  6. Jennifer Campbell4
  1. 1 Neonatal Unit, Leeds Children’s Hospital, Leeds, UK
  2. 2 Fetal Medicine Unit, Leeds General Infirmary, Leeds Teaching Hospitals NHS Trust, Leeds, UK
  3. 3 Leeds Genetics Laboratory, St James’s University Hospital, Leeds, UK
  4. 4 Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK
  1. Correspondence to Dr Katherine J Pettinger, Neonatal Unit, Leeds Children’s Hospital, Leeds General Infirmary, LS1 3EX; katherine.pettinger{at}

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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 …

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  • Contributors KP wrote the main body of the text, with contributions from LM. KJ, AB, IB and JC reviewed the work.

  • Competing interests None declared.

  • Patient consent Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.