Open AccessHemifacial microsomia with pulmonary hypoplasia
Author(s) -
Inusha Panigrahi,
Rashmi Ranjan Das,
Ram Kumar Marwaha
Publication year - 2010
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.04.2009.1759
Subject(s) - hemifacial microsomia , medicine , hypoplasia , microtia , dysostosis , facial symmetry , pulmonary hypoplasia , anatomy , surgery , craniofacial , congenital disease , genetics , pregnancy , fetus , psychiatry , biology
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.