Goldenhar syndrome presenting atypically with an additional cranial bone.

Abstract

Normal development of the fetal frontal bones has been described using serial three-dimensional (3D) ultrasound since 20051. Subsequently, development of the fetal forehead has been described in abnormal conditions including holoprosencephaly and Apert syndrome2, 3. We report on an atypical case of Goldenhar syndrome, presenting prenatally with an additional cranial bone. At the time of the anomaly scan, a cranial gap was detected in the left frontal area of one fetus of a dichorionic twin pregnancy, which initially resembled frontal encephalocele or metopic craniosynostosis. Reconstruction of the frontal bones and the metopic suture using 3D ultrasound (Voluson E6 Expert, GE Medical Systems Kretztechnik, GmbH & Co., OHG, Austria) revealed the presence of an additional xiphoid bone, extending from the anterior fontanel to the nasal region between the frontal bones (Figure 1a). There were no signs of brain prolapse, and no further major fetal structural abnormalities were found, apart from a smaller left nasal bone. The parents were counseled on the paucity of data regarding the outcome of these cases. The option of undergoing amniocentesis was discussed and declined, as its result would not have altered the parents' decision to continue the pregnancy. Fetal brain magnetic resonance imaging (MRI) at 31 weeks' gestation confirmed the absence of encephalocele through the cranial defect. The fetuses were delivered by elective Cesarean section at 34 + 1 weeks' gestation and subsequently underwent an extensive examination, which revealed no further abnormalities, apart from a coloboma in the ipsilateral (left) eyelid and bilateral preauricular tags in the index twin. 3D cranial computed tomography confirmed the prenatal findings (Figure 1b) and a cyst of the cavum septi pellucidi was detected on postnatal brain MRI. Cytogenetic analysis of the affected twin showed a normal female karyotype. Findings on neonatal neurological examination were normal, and neurodevelopment continued to be normal at the time of writing, when the infant was 1 year old. Chaoui et al.3 reported on 11 cases with abnormalities of the metopic suture, detected in the second and third trimesters of pregnancy. Among these fetuses, three had developed additional bones and all presented with additional abnormalities (intracranial, facial and extracranial); all pregnancies were terminated. The case with greatest similarity to ours had an additional bone in the metopic suture, a facial cleft extending from the right nostril to the eyelids, lipoma of the corpus callosum and unilateral clubfoot, and was diagnosed with Goldenhar syndrome. Goldenhar syndrome (OMIM 164210) is most commonly sporadic and its main features include ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%) and congenital heart defects (33%)4. Prenatal diagnosis is usually based on the presence of major findings such as hemifacial microsomia and facial clefts. Minor detectable defects include eyelid colobomas, preauricular tags or pits and ocular dermoids. Given that major defects are found prenatally in approximately only half of these fetuses5, we highlight the importance of not adhering to the typical clefting and hemifacial–microsomia pattern, and strongly recommend looking for minor detectable signs ( colobomas, tags) when a cranial deformity is detected, however atypical of Goldenhar syndrome it may be. A. Sotiriadis*†, E. Diamanti‡ and F. Chatzinikolaou§ †Second Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Hippokrateio General Hospital, Thessaloniki, Greece; ‡First Department of Neonatology and Intensive Care Unit, Aristotle University of Thessaloniki, Hippokrateio General Hospital, Thessaloniki, Greece; §Laboratory of Forensic Medicine and Toxicology, Aristotle University of Thessaloniki, Hippokrateio General Hospital, Thessaloniki, Greece *Correspondence. (e-mail: [email protected])