Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia

Abstract

A family with oculoauriculovertebral dysplasia is reported in which there are nine affected members spanning three consecutive generations. It is concluded that despite the known genetic heterogeneity in this disorder, there is an autosomal dominant form. Thus, genetic counseling can only be given after proper completion of all the necessary clinical and family studies.

Goldenhar Syndrome with Various Clinical Manifestations

“…A kindred with many affected persons and an autosomal dominant pattern, including male-to-male transmission, was reported by some authors (Summit, 1969;Regenbogen, 1982). We have documented mostly sporadic occurrence in our clinical material, with no history of consanguinity, but the origin of the ancestors came from the same endogamnic territory.…”

Goldenhar-Associated Conditions (hemifacial microsomia) and Congenital Deformities of the Spine

“…Mean age at presentation was 8 years (range 0. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19]. None of the patients included in our study had a family history of Goldenhar-associated conditions.…”

Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome

“…OAVS is a common birth defect with highly variable phenotype ranging from isolated microtia to significant facial asymmetry with no generally accepted minimal diagnostic criteria (Regenbogen et al, 1982;Kaye et al, 1992). Although OAVS is considered a complex disorder, there is evidence to suggest that genetic factors may play an important role in the etiology of OAVS.…”

“…The variable phenotype includes atresia of the external auditory canal, hemifacial hypoplasia, facial nerve paralysis, microtia, and various forms of congenital heart defects including ventricular septal defect (VSD), tetrology of fallot with or without a right aortic arch, dextrocardia, transposition of great arteries, and double-outlet right ventricle, prompting the designation 'oculo-auriculo-vertebral spectrum' (OAVS) (Gorlin et al, 1963;Cohen et al, 1989;Zelante et al, 1997). Most cases are sporadic, although autosomal dominant inheritance, chromosomal, and environmental causes have been reported (Summitt 1969;Regenbogen et al, 1982;Jongbloet 1987;Kobrynski et al, 1993). A genome-wide search for linkage in one family suggested linkage to a region of 10.7 cM on chromosome 14q32, between the microsatellite markers D14S987 and D14S65.…”