Probably monozygotic twins with discordance for Goldenhar syndrome

Abstract

Discordance with respect to the Coldenhar syndrome is reported in twin sisters presumed to be monozygotic on the basis of placentation and blood group studies.In the development of the embryopathy, environmental factors may have played a significant role.

A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210

“…Studies postulate that GS is part of a more complex clinical presentation of first and second branchial arches defects and the presence of additional vertebral anomalies with or without epibulbar dermoids [11]. In some of the few cases it is described without structural vertebral anomalies [12]. In most of the cases coloboma of the upper eyelid is observed more frequently.…”

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

“…This is in concordance with the results of Mastroiacovo et al (1999), who described an increase of at least 60% in the risk of total malformations for twins compared with singletons in three registries and stated that all anatomical sites are involved. Ferraris et al (1999) Triplets from IVF Goldenhar (1952) + Gomez Garcia et al (1984) + Grabb (1965) + 4x + 4 twin pairs Heimann (1968) + Ignacio Rodriguez et al (1993) 3 t w i n p a i r s Keusch et al (1991) 10 twin pairs, one concordant Lawson et al (2002) 11 twin pairs Lenz (1980) + Maris (1999) 6 same sex twin pairs, discordant Papp et al (1974 The association between twinning and OAVS may have several reasons: (1) the embryologic defect in OAVS causes twinning, (2) twinning increases the risk for OAVS, and (3) twinning and OAVS have a common basis.…”

Avaliação genética-clínica e audiológica de indivíduos com anomalias de 1º e 2º arcos branquiais associadas à anomalia radial

“…Herança autossômica recessiva foi sugerida pela recorrência em irmãos (Saraux et al 1963, Kirke 1970, Krause 1970) e consangüinidade parental (Witters et al 2001) e, herança autossômica dominante, pela recorrência em diferentes gerações (Hermann e Optiz 1969, Summitt 1969, Parving 1978, Setzer et al 1981, Regenbogen et al 1982, Singer et al 1994, Stoll et al 1998. Gêmeos monozigóticos discordantes (Bock 1951, Cordier et al 1970, Papp et al 1974, Setzer et al 1981, Boles et al 1987, Ebbesen e Petersen 1982, Burck 1983, Rollnick e Kaye 1983, Connor e Fernandez 1984, Gómez-Garcia et al 1984, Perez Alvarez et al 1984, Stoll et al 1984; gêmeos monozigóticos concordantes (Terhaar 1972, Schwechendiek et al 1976, Ryan et al 1988 e gêmeos dizigóticos discordantes para o fenótipo EOAV (Grabb 1965, Heimann 1968, Rapin e Ruben 1976, Shprintzen 1982, Connor e Fernandez 1984, foram referidos em literatura.…”