During the 2016 ZIKV outbreak in Merida, Mexico, a 27-year-old woman in the third trimester of pregnancy was referred to medical geneticist because multiple malformations detected in the fetus. Informed consent was obtained for sampling, clinical evaluations, and for the publication report. Exploring the medical records, she reported unquantified fever, preauricular nodes, pruritus and rash in the shoulder girdle and thorax in the first trimester when the pregnancy was unnoticed. No serological tests were performed for ZIKV at that time. Ultrasound was performed at 16.4 weeks of gestation with report of fetal growth within normal ranges; but at 23 weeks of gestation, the fetal hands were not identified. At 27.4 weeks of gestation, fetus was reported with microcephaly (DBP 58 mm); nuchal thickening, ventriculomegaly, hemisphere hypoplasia and cerebellar vermis were detected in the brain, and micrognathia, right radial aplasia, and arthrogryposis were also reported at that time.
A stillbirth with generalized subcutaneous edema was obtained via cesarean section at 35 weeks of gestation. At physical exploration showed craniofacial disproportion, microcephaly, irregular anterior and lower posterior hairline. Posterior sloping of the forehead and hypertelorism were observed. The nasal bridge, the nostrils and the filtrum were normal. Retrognathia and normal oral cavity were found. The ears were cupped with low implantation and thickened helix. The shoulders were short, with internal rotation and presented limitation to abduction. The left upper limb presented an extended elbow with limitation to the reduction, pronation arm, flexed wrist, non-reducible hand with cyanotic coloration. The upper right limb was conformed only to the proximal third of the arm. At this level, soft tissue defect was found with the presence of an irregular cutaneous line, exposure of subcutaneous tissue and the humeral condyle, no tissue bleeding was detected (Figure 1). The lower extremities presented limitation to hip abduction, knee extension and flexion of both feet. The genitalia anatomy showed 1 cm penis and a complete rough scrotum without testes inside.
On the skull x-ray, everted sutures and partial collapse of the cranial bones with a hypoplastic occipital was observed. The radiograph of the upper extremities shows a right humerus shorter than the left, with preserved of the distal region of the humerus (Figure 2). Computational axial tomography reported subcortical calcifications, lissencephaly, ventriculomegaly, and generalized cortical degeneration. The karyotype was normal, 46, XY. The serological test for toxoplasma, rubella, cytomegalovirus and herpes virus were negative in the mother and the patient. The RT-PCR for ZIKV/Dengue/Chikungunya in the patient's cerebrospinal fluid detected the presence of Zika viral RNA. Autopsy was not authorized.