Infant Journal
for neonatal and paediatric healthcare professionals

A floppy baby with elevated right hemidiaphragm and large stomach bubble on chest radiograph: what’s the diagnosis?

A preterm neonate of 36 weeks’ gestation was born via emergency lower segment caesarean section, requiring respiratory support soon after birth. She was hypotonic from birth and was found to have a large gastric bubble and a raised right hemidiaphragm on X-ray. She reached full feeds through a nasogastric tube on day 3 of life but later developed severe gastro-oesophageal reflux with pulmonary aspiration. What is the likely diagnosis?

Fatimah Aliyu
ST6 Paediatric Trainee, York Teaching Hospital, NHS Foundation Trust, f.aliyu@nhs.net

Udoka Asoh
ST7 Paediatric Trainee, Neonatal Unit, Hull University Teaching Hospitals NHS Trust, u.asoh@nhs.net

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Keywords
geroderma osteodysplasticum; cutis laxa; GORAB gene; heritable disorders of connective tissue
Key points
  1. Geroderma osteodysplasticum, cutis laxa and wrinkly skin syndrome are rare conditions that may be confused with Ehlers-Danlos syndromes.
  2. Defining the disease phenotype for these disorders is challenging because of overlapping presentations and clinical course.
  3. Careful clinical examination and genetic evaluation are important in differentiating rare conditions with similar clinical features.