Kerckoff VH, Retamoza B, Bautista A

Language: Spanish
References: 9
Page: 691-694
PDF size: 249.39 Kb.

ABSTRACT

Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome, is a rare illness with unknown etiology. It happens in 1 of 50,000 newborns and is characterized by first and second brachial arch changes, with variable grades of hemifacial hypoplasia. We report a clinical case of a 39 years-old woman with a BMI of 33, family history of diabetes mellitus decease, and two fetal losses with unknown etiology. We first met patient at 24 gestational weeks. Second level ultrasound findings were: fetus with tri-ventricular obstructive hydrocephalia, symmetrical macrocranium, and occipital encephalocele. As her capilar glycaemia level was 197 to 338 mg/dL, diagnosis was gestational diabetes. Patient was scheduled to cesarian section and we obtain a newborn with: 2,050 g of weight, 45 cm of height, 38 cm of cephalic diameter, 6/7 Apgar score, and 33 gestational weeks (Capurro). Obesity and 2-type diabetes are well-known fetal malformation etiologies, due to insulin resistance. Maternal hyperglycemia causes oxidative stress in embryo cells, it changes Pax3 gene path, and causes several chromosomopaties and malformations; main perinatal mortality etiology, among them, are neural tube alterations. All together enable to establish this Goldenhar diagnosis: palpebral coloboma, facial asymmetry, external ear, upper hemivertebra, and microphthalmy.

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