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

Abstract

A great number of case reports on concordant and discordant twins with oculo-auriculo-vertebral spectrum (OAVS) suggest that there might be an association between reproductive abnormalities, twinning and OAVS. The etiology of OAVS is unknown, but may involve epigenetic dysregulation of the oocyte or early embryo. We collected data on fertility and pregnancy outcome of 72 parents of patients with sporadic OAVS. We also evaluated prospective follow-up data on 3.372 fetuses and children conceived by intracytoplasmatic sperm injection (ICSI). Parental age, duration of menstrual cycle and the incidence of spontaneous abortion was not different when compared to the German population. However, there is an excess of parents who have used assisted reproductive techniques (ART; retrospective P = 0.038, prospective P = 0.023) and an excess of twins among naturally conceived patients with OAVS (P = 0.0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet (Maandschr Kindergeneeskd 36:352-367, 1968).

Genetic predisposition in children with cancer – affected families' acceptance of Trio-WES

“…Comparing these data with data from the Federal Statistical Office and the German IVF Registry, no differences were observed in parental age, prematurity, or the number of reported ARTs used [16].…”

Variabilidade fenotípica na síndrome do cromossomo supernumerário der(22)t(11;22) (síndrome de Emanuel)

“…Alterações cromossômicas têm sido descritas em alguns pacientes com esse fenótipo (12,14,16) e o presente relato representou o segundo caso com um cromossomo supernumerário der(22)t(11;22) (11,17) . Por outro lado, não se pode excluir a possibilidade de que os eventos vasculares ocorridos durante a gestação (sangramentos vaginais e contrações uterinas), fatores possivelmente associados à etiologia do espectro óculo-aurículo-vertebral (10,13) , possam ter tido algum efeito sobre o seu fenótipo.…”

“…É clinicamente caracterizado pelo envolvimento assimétrico de estruturas originárias dos primeiros arcos branquiais. Entretanto, achados em outros órgãos ou sistemas, como cérebro, coração, membros e rins, são frequentemente observados (10)(11)(12)(13)(14) .…”

Case report: Goldenhar syndrome following donor oocyte IVF

“…Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is a rare condition characterised by ocular, auricular and vertebral anomalies [1], that is estimated to occur in 1 in 5,600 newborn infants [2]. Although the aetiology of the condition is unknown, some familial cases with autosomal dominant or autosomal recessive inheritance have been described.…”