Bilateral microtia with severe cardiac defect: a new syndrome, or a severe manifestation of the oculoauriculovertebral spectrum?
A male infant is reported with bilateral low-set dysplastic ears, a severe cardiac defect, rib and vertebral anomalies, and intestinal malrotation. Karyotype and metabolic investigations were normal. Some clinical overlap with Goldenhar syndrome is observed but the symmetry of the facial features makes this diagnosis difficult to sustain. We feel this case may represent a previously undescribed condition, arising from abnormal development of the first and second branchial arches during embryonic life.
Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland, UK. shane.mckee@bch.n-i.nhs.uk
Shane
S
McKee
Rheem
R
Mabrouk
Sanjeev
S
Bali
D018376:Cardiovascular Abnormalities / Q000150:complications*; D004431:Ear, External / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D006053:Goldenhar Syndrome / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013902:Radiography, Thoracic; D013576:Syndactyly / Q000150:complications; D013577:Syndrome