7q21.11 microdeletion in a neonate with Goldenhar syndrome: Case report and a literature review

Surasak Puvabanditsin, Melissa February, Lissa Francois, Eugene Garrow, Chantal Bruno, Rajeev Mehta

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

The oculoauriculovertebral spectrum or Goldenhar syndrome is characterized by varying degrees of prevalently unilateral underdevelopment of the craniofacial structures (orbit, ear, and mandible) in association with vertebral, cardiac, renal, and central nervous system defects. We report on a term neonate with a partial monosomy 7q21.11 with marked hemifacial microsomia, facial clefting, and spinal anomaly. The estimated size of the monosomic region of 7q21.11 was approximately 55 kilobases. This is the first report of a patient with partial monosomy 7q21.11 associated with oculoauriculovertebral spectrum.

Original languageEnglish (US)
Pages (from-to)249-252
Number of pages4
JournalCleft Palate-Craniofacial Journal
Volume53
Issue number2
DOIs
StatePublished - Mar 2016

All Science Journal Classification (ASJC) codes

  • Oral Surgery
  • Otorhinolaryngology

Keywords

  • Chromosomal anomaly
  • Goldenhar syndrome
  • Oculoauriculovertebral spectrum
  • Partial 7q deletion

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