Oculoauriculovertebral anomaly: Segregation analysis

Abstract

Seventy-four families of probands with oculoauriculovertebral anomaly were evaluated, including 116 parents and 195 offspring. Relatives were examined to identify ear malformations, mandibular anomalies, and other craniofacial abnormalities. For segregation analysis using POINTER, selection of the sample was consistent with single ascertainment. Different population liabilities were used for probands and relatives, because affection was narrowly defined for probands and broadly defined for relatives. The hypothesis of no genetic transmission was rejected. The evidence favored autosomal dominant inheritance; recessive and polygenic models were not distinguishable.

Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1

“…Interestingly, autosomal dominant transmission of OAV has been reported [Kaye et al, 1992;Stoll et al, 1998;Beck et al, 2005;Richieri-Costa and Ribeiro, 2005;Tasse et al, 2007]. This has prompted speculation that such cases may actually represent variants of TBS [Johnson et al, 1996;Keegan et al, 2001] and BOR [Rollnick and Kaye, 1985;Sensi et al, 1996] and be caused by mutations in either the TBS or BOR genes, SALL1 and EYA1, respectively.…”

Genome-Wide Scanning Reveals Complex Etiology of Oculo-Auriculo-Vertebral Spectrum

“…Maternal use of medications (Jacobsson and Granstrom 1997;Johnston and Bronsky 1995) and maternal diabetes (Wang et al 2002) contribute to infants with OAVS, which suggests that nongenetic factors play a role in the development of OAVS. Nevertheless, chromosomal aberrations (Engiz et al 2007;Balci et al 2006;Choong et al 2003;Descartes 2006;Josifova et al 2004;Ala-Mello et al 2008;Xu et al 2008;Rooryck et al 2009) and the identification of several families with autosomal dominant (Tsai and Tsai 1993;Stoll et al 1998;Tasse et al 2007;Goodin et al 2009;Vendramini-Pittoli and Kokitsu-Nakata 2009) or recessive inheritance (Kaye et al 1992) indicate that OAVS has a hereditary basis.…”

Goldenhar's Syndrome Associated With Occipital Meningoencephalocele. Case Report.

“…Cervical vertebral fusion, spina bifida, hemivertebrae, and scoliosis are frequent skeletal abnormalities in this syndrome, and ventricular septal defect or tetralogy of Fallot occurs in about 50% of the heart defects. 4) In addition, pulmonary and renal anomalies are also common major complications of Goldenhar's syndrome. However, encephalocele has been rarely reported.…”

“…3) The frequency of this syndrome is estimated as one per 5600 to 26550 births, and the male:female ratio is about 3:2. 4) We discuss a case of Goldenhar's syndrome associated with meningoencephalocele and describe the skeletal abnormalities on three-dimensional computed tomography (3D CT) images.…”