Asymmetrically enlarged parietal foramina in a rare case of Goldenhar syndrome with a possible etiopathogenesis

Abstract

Goldenhar´s syndrome (GS) also known as oculo-auriculo-vertebral spectrum (OAVS) is a relatively rare condition. GS is of multifactorial etiology that includes environmental and/or genetic factors, in addition to teratogens that disturb the blastogenesis. A 5-year-old girl from Saudi Arabia, was a member of dizygotic twins conceived by assisted reproductive technology (ART), and born with features of GS. She had asymmetrical face, cleft lip and palate, right microphthalmia and microtia. Radiological imaging showed right maxillary and mandibular bone hypoplasia, asymmetrically enlarged parietal foramina, a persistent midline occipital foramen, abnormal bone arising from occipital bone, extending along tentorium cerebelli, and a lipoma at the right tentorium cerebelli. A rudimentary right eye with dermoid cyst and pseudotumor as well as bilateral atresia of external auditory canals were present. Karyotyping was normal. ART and the risk of manipulation of ovum/embryo, was shown to be associated with multiple gestation and an increased risk of major birth defects. Given that our patient was from Eastern-province close to the South of Iraq, where Gulf wars took place and the reported incidence of birth defects, including orofacial malformation, jumped there to about seven-folds, after war, thus, environmental contamination, and the possible teratogenic effect of depleted uranium could not be excluded. In conclusion, our case of GS, disclosed a rare radiological finding in calvarial anatomy, and asserted that, careful clinical evaluation is recommended in cases of GS. ART fertilization risk along with the possible parental environmental exposure were regarded as the potential cooperators of multifactorial etiology in our case.

Emissary Foramina of the External Occipital Protuberance: A Magnetic Resonance Imaging Study

“…The posterior interparietal region of the skull has been thought to predispose to a variety of bony variants and congenital anomalies involving the scalp, skull, meninges, and adjacent cerebral cortices. 4,[6][7][8][9][10][11][12][13] In this study, 4% of the identified PF presented an obstruction around the outer opening, which may make it difficult to identify on dry skulls, cadaver specimens, and intraoperative observation. This means that the frequency of the PF may be underestimated for a superficially hidden outer opening.…”

“…The region has been known to predispose to a variety of bony variants and congenital anomalies involving the scalp, skull, meninges, and adjacent cerebral cortices. 4,[6][7][8][9][10][11][12][13] Consequently, extensive studies have been conducted on the PFs, cranial sutures associated with the posterior interparietal region, and patterns of developmental ossifications in the region. 12,[14][15][16][17] However, to the best of our knowledge, no study has explored the bony canals of the posterior interparietal region in detail.…”