Unilateral microtia in an infant with trisomy 18 mosaicism

Trisomy 18 is the second most frequent autosomal aneuploidy, after Down's syndrome, in humans. It causes severe congenital abnormalities and mental retardation although phenotypic features, clinical manifestations and prognosis vary occasionally. In cases oftrisomy 18 mosaicism, as in every chromosomal mosaicism, the spectrum of clinical characteristics extends from pathological to almost normal. We report a 9 months old female infant who has been referred to the Genetics Department for evaluation because of unilateral severe microtia, aplasia of mastoid abscess and hemifacial palsy and inlet type intraventricular defect with pulmonary hypertension. Chromosomal investigation revealed a mosaic trisomy 18 [46,XX/47,XX+18] in proportion of 52% and 48% respectively. Microtia/anotia is present in 1.46-4.36/10,000 live births in the general population while the combination of microtia/anotia with trisomy 18 has been reported in very few cases in the relevant bibliography.