Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: coincidental findings or etiologic factor?

摘要: Oculo-auriculo-vertebral (OAV) spectrum or Goldenhar syndrome is a complex and heterogeneous condition characterized by hemifacial microsomia (unilateral ear abnormalities ipsilateral mandibular hypoplasia) as well vertebral anomalies epibulbar dermoids lipodermoids. Although most cases of OAV are sporadic, both autosomal recessive dominant inheritance have been reported. Furthermore, the association with different types chromosomal has described. We present premature newborn delivered after 36 weeks gestation, whose birth weight was 2,100 g, length 43 cm head circumference 32.5 cm. associated axial skeleton anomalies, eventration right hemidiaphragm, accessory spleen, unlobulated lung, agenesis kidney, ovary uterine horn, partial corpus callosum were found. She second child unrelated parents, who healthy boy. Both parents refused analysis their peripheral blood. Trypsin G-banding C-banding patient's blood revealed pericentric inversion chromosome 9 break points at p11 q13. This may be coincidental causal finding.