Oncotarget

Case Reports:

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

Lika’a Fasih Y. Al-Kzayer _, Shamil Naji Sarsam, Nagham Younus Alhur, Tingting Liu and Yozo Nakazawa

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Oncotarget. 2018; 9:2962-2968. https://doi.org/10.18632/oncotarget.23479

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Abstract

Lika’a Fasih Y. Al-Kzayer1, Shamil Naji Sarsam2, Nagham Younus Alhur3, Tingting Liu4 and Yozo Nakazawa1

1 Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan

2 Department of Radiology, Ibn Al-Nafees Hospital, Manama, Kingdom of Bahrain

3 Department of Obstetrics and Gynecology, College of Medicine, Hawler Medical University, Erbil, Iraq

4 Department of Pediatric Hematology/Oncology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China

Correspondence to:

Lika’a Fasih Y. Al-Kzayer, email:

Keywords: Goldenhar syndrome; oculoauriculovertebral spectrum; enlarged parietal foramina; assisted reproductive technology embryo; depleted uranium (DU)

Received: December 11, 2017 Accepted: December 14, 2017 Published: December 20, 2017

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.


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