Infant Journal
Browse articlesA 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 AliyuST6 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
- Geroderma osteodysplasticum, cutis laxa and wrinkly skin syndrome are rare conditions that may be confused with Ehlers-Danlos syndromes.
- Defining the disease phenotype for these disorders is challenging because of overlapping presentations and clinical course.
- Careful clinical examination and genetic evaluation are important in differentiating rare conditions with similar clinical features.
