Oculo-auriculo vertebral spectrum in Klinefelter syndrome

Livia Garavelli, R. Virdis, A. Donadio, M. Sigorini, G. Banchini, P. Balestrazzi, J. P. Fryns

Research output: Contribution to journalArticlepeer-review

Abstract

We report a boy with classical 47,XXY Klinefelter syndrome (KS) and oculo-auriculo-vertebral spectrum (OAV). Two patients with KS and OAV were reported previously. Also, the combination of bilateral aplasia of the mandibular ramus and condyle and KS has been documented, The present observation supports the view that the cause of hemifacial microsomia appears heterogeneous and that OAV may be part of the spectrum of craniofacial anomalies associated with KS.

Original languageEnglish
Pages (from-to)321-324
Number of pages4
JournalGenetic Counseling
Volume10
Issue number3
Publication statusPublished - 1999

Keywords

  • Goldenhar syndrome
  • Hemifacial microsomia
  • Klinefelter syndrome
  • Oculo-auriculo-vertebral spectrum

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Oculo-auriculo vertebral spectrum in Klinefelter syndrome'. Together they form a unique fingerprint.

Cite this