A family with dominant oculoauriculovertebral spectrum

Am J Med Genet. 1998 Jul 24;78(4):345-9. doi: 10.1002/(sici)1096-8628(19980724)78:4<345::aid-ajmg8>3.0.co;2-k.


In 1990, Gorlin et al. [Syndromes of the Head and Neck, New York: Oxford University Press, pp 641-649, 707-708] proposed to lump several syndromes together, including facioauriculovertebral syndrome, hemifacial microsomia, otomandibular dysostosis, Goldenhar syndrome, the first branchial arch anomalies and the first and second branchial arches anomalies. They proposed to use the term oculoauriculovertebral "spectrum." Because there is no agreement on minimal diagnostic criteria the phenotype overlaps many genetic and teratologic syndromes. Most cases are sporadic, but familial instances have also been observed in first-degree relatives. We report on a mother and two of her children who have the oculoauriculovertebral "spectrum." The mother had only auricular anomalies for which she had plastic and reconstructive surgery. Her first child, a girl, had a bilateral cleft lip and palate, a coloboma of upper eyelid, facial asymmetry, and posteriorly angulated ears. This child also had bilateral vesicoureteral reflux. During the second pregnancy fetal ultrasonographic examination performed at 18th week of gestation showed a cleft lip and palate. At the thirty-first week of gestation, club feet, hypoplasia of the left ear, hypoplasia of the left maxillary and mandibular arches, and left microphthalmia were evident. Examination of this fetus confirmed ultrasonographic findings and demonstrated vertebral anomalies. This familial observation confirmed variable expressivity of the oculoauriculovertebral anomaly with isolated microtia (the mother), major malformations (the fetus), and less serious anomalies (the first child) and showed that this condition may be inherited as an autosomal or X-linked dominant condition.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics*
  • Cleft Lip / embryology
  • Cleft Lip / genetics
  • Cleft Palate / embryology
  • Cleft Palate / genetics
  • Diabetes, Gestational / diet therapy
  • Female
  • Genes, Dominant*
  • Gestational Age
  • Goldenhar Syndrome / diagnosis
  • Goldenhar Syndrome / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Nuclear Family
  • Pedigree
  • Pregnancy
  • Spine / abnormalities
  • Spine / embryology
  • Syndrome
  • X Chromosome / genetics