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History and examination
A term, appropriately grown, female infant born in good condition by vaginal delivery with normal antenatal course was noted to have an abnormality of the right external ear (figure 1) and two birthmarks (figures 2 and 3) that did not grow in size at follow-up aged 3 months.
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What is the likely cause of these birth defects?
Chromosomal abnormality
Single gene mutation
Prenatal environment
Multifactorial influences
Unknown
What are the vascular lesions?
Superficial infantile haemangioma (IH)
PHACE syndrome
Kasabach-Merritt phenomenon
Port-wine stain
Naevus simplex
With regard to the ear anomaly, what are the immediate next steps?
Referral to clinicians with knowledge of microtia
Behaviour audiometry and ear-specific hearing information
Bone-anchored hearing aid
CT imaging for external auditory canal and corrective surgery
Referral …
Footnotes
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; internally peer reviewed.