Bilateral microtia with severe cardiac defect: a new syndrome, or a severe manifestation of the oculoauriculovertebral spectrum?

Clinical Dysmorphology
Shane McKeeSanjeev Bali

Abstract

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.

References

Jun 1, 1996·Journal of Medical Genetics·M P SplittJ Goodship
Sep 24, 2002·American Journal of Medical Genetics·Christiane SchifferConsolato Sergi
Aug 12, 2003·American Journal of Medical Genetics. Part a·Carsten BergmannSabine Rudnik-Schöneborn

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Citations

Nov 14, 2008·Otolaryngologia polska. The Polish otolaryngology·Agnieszka GarsteckaKatarzyna Skonieczka

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