Goldenhar syndrome: a rare diagnosis with possible prenatal findings

Abstract

Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed. 11 syndromes with poor fetal or neonatal prognosis were identified as possible diagnosis, using a genetic database and the couple asked for a medical termination of pregnancy. Postmortem examination has shown features consistent with Goldenhar syndrome.

The association between guidelines adherence and clinical outcomes during pregnancy in a cohort of women with cardiac co-morbidities

“…The cohort's broad spectrum of maternal cardiac diagnosis and neonatal diagnosis which includes rare syndromes namely Scimitar, Goldenhar and Noonan are available in S1 and S2 Tables [24][25][26].…”

The Clinical Case of Hemifacial Microsomia in the Newborn Boy From Mother With Z-21

“…Alternative names: otocraniostenosis, craniofacial microsomia, lateral facial dysplasia, syndrome of the first and second pair of branchial arches, Goldenhar syndrome or oculo-auriculovertebral dysplasia. Historically, if a patient is diagnosed with epibulbar dermoid among the symptoms, the disease is called Goldenhar syndrome (GS), and if it is not -Hemifacial Microsomia [1][2][3].…”

“…Gorlin and Pindborg (1963) reported their observations under the general name "oculo-auriculo-vertebral dysplasia", thus pointing to changes in the spine: hemivertebrale, occipitalisatio atlantis, spina bifida occulta and others. Since then, GS has been defined as dysplasia of the eyes, ears and spine in the clinical atlas of congenital anomalies of the face [1,2,4,5,6].…”

“…The ratio of boys and girls is 3:2. The probability of giving birth to the next child with this disease is about 2%, the probability of transmitting the disease to children -less than 3 % [2,5].…”

“…The etiology of the disease does not exclude the role of adverse obstetric and gynecological history of the mother: previous abortions, diabetes, overweight, malnutrition, smoking and alcohol use; and the influence of teratogenic factors in early pregnancy, such as drugs cocaine, thalidomide, retinoic acid, herbicides [2,6,9,10,11]. Posvillo (1976), using an animal model, suggested that fetal hypoxia, maternal hypertension, anticoagulants can lead to hematoma in the ear or jaw of the fetus.…”