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Logo of bmjcrInstructions for authorsCurrent ToCBMJ Case Reports
 
BMJ Case Rep. 2010; 2010: bcr0420091759.
Published online May 17, 2010. doi:  10.1136/bcr.04.2009.1759
PMCID: PMC3047013
Other full case
Hemifacial microsomia with pulmonary hypoplasia
Inusha Panigrahi, Rashmi Ranjan Das, and Ram Kumar Marwaha
PGIMER, Pediatrics, APC, Sector 12, Chandigarh, 160012, India
Correspondence to Inusha Panigrahi, inupan/at/yahoo.com
Abstract
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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