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BMJ Case Rep. 2010; 2010: bcr0420091759.
Published online 2010 May 17. doi:  10.1136/bcr.04.2009.1759
PMCID: PMC3047013
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Hemifacial microsomia with pulmonary hypoplasia


Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. HFM is characterised by facial asymmetry, microtia, preauricular tags, macrostomia and cardiac defects. The majority of cases are sporadic, although autosomal dominant and recessive modes of inheritance have been reported. Here, the case of an 11-month-old boy with HFM and pulmonary hypoplasia, which is a rare association, is described. Pulmonary hypoplasia was detected during investigation of the patient for associated anomalies. He is currently on follow-up in the genetic clinic.

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