Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome
C Mercer, R Gilbert, S Loughlin… - Clinical Dysmorphology, 2006 - journals.lww.com
The patient was identified antenatally as having an interrupted aortic arch, ventricular–septal
defect and small kidneys. Shortly after delivery, other features were found including
preauricular pits and bilateral branchial sinuses (Fig 1). When he was reviewed at 2 years,
he was found to have the above features and mixed hearing loss. This seemed to be a clear
case of branchio-oto-renal (BOR) syndrome. He also had a rather long, myopathic face, a
high-arched palate, micrognathia and a small stature,< 0.4 th centile. His shoulders were …
defect and small kidneys. Shortly after delivery, other features were found including
preauricular pits and bilateral branchial sinuses (Fig 1). When he was reviewed at 2 years,
he was found to have the above features and mixed hearing loss. This seemed to be a clear
case of branchio-oto-renal (BOR) syndrome. He also had a rather long, myopathic face, a
high-arched palate, micrognathia and a small stature,< 0.4 th centile. His shoulders were …