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

Lika’A Fasih Y Al-Kzayer,Shamil Naji Sarsam,Tingting Liu,Nagham Younus Alhur,Yozo Nakazawa

doi:10.18632/oncotarget.23479

Lika’A Fasih Y Al-Kzayer, Shamil Naji Sarsam + Show 3 more

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https://doi.org/10.18632/oncotarget.23479

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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.

Highlights

Goldenhars syndrome (GS) known as oculoauriculo-vertebral spectrum (OAVS) is a relatively rare congenital condition characterized by incomplete development of the head and face structures
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
Assisted reproductive technology (ART), such as intracytoplasmic sperm injection (ICSI) and the risk of manipulation of ovum and embryo, was shown in general to be associated with multiple gestation and an increased risk reaching up to 10% for major birth defects in some studies compared to naturally conceived embryos [9]

Summary

Introduction

Goldenhars syndrome (GS) known as oculoauriculo-vertebral spectrum (OAVS) is a relatively rare congenital condition characterized by incomplete development of the head and face structures. In 1963, Gorlin named this syndrome as OAVS. A wide range of anomalies were described in OAVS including unilateral or bilateral facial hypoplasia, ear, and eye malformations. Vertebral, cardiac, renal, and cerebral abnormalities were reported to be part of the spectrum. Ear malformation as a minimal clinical sign, must be present, www.impactjournals.com/oncotarget to raise the index of OVAS suspicion. The exact cause still unknown, a multifactorial etiology that included interaction of environmental and/or genetic factors, in addition to teratogens, were proposed to disturb the blastogenesis. Some of the reported cases had a positive family history (2%), suggestive of an autosomal dominant/ recessive inheritance [1,2]

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