Abstract
BackgroundMicrognathia is a facial malformation characterized by mandibular hypoplasia and a small, receding chin that fails to maintain the tongue in a forward position. We previously reported a system of prenatal screening that we developed to identify fetuses with compromised central nervous system function by observing fetal behavior. In this paper we report the case of a preterm infant with micrognathia and pulmonary hypoplasia who presented abnormal fetal movements.Case presentationA 27-year-old Japanese primigravida at 33 weeks of gestation was referred to our hospital. Ultrasonographic examination revealed clinical polyhydramnios. Micrognathia was evident on midsagittal and 3 D scan. The lung area was less than the mean -2.0 standard deviations for the gestational age. The infant had mandibular hypoplasia and glossoptosis. After emergency cesarean delivery for non-reasuring fetal status, required immediate tracheostomy and cardiopulmonary resuscitation with mechanical ventilatory support. However, the infant's cardiopulmonary condition did not improve and she died 21 hours after birth.ConclusionsThe findings of our ultrasound exam are suggestive of brain dysfunction. The observation of fetal behavior appears to be effective for the prediction of prognosis of cases with micrognathia.
Highlights
Micrognathia is a facial malformation characterized by mandibular hypoplasia and a small, receding chin that fails to maintain the tongue in a forward position
The observation of fetal behavior appears to be effective for the prediction of prognosis of cases with micrognathia
We report the case of a preterm infant with micrognathia and pulmonary hypoplasia who presented abnormal fetal movements
Summary
Micrognathia is a facial malformation characterized by mandibular hypoplasia and a small, receding chin that fails to maintain the tongue in a forward position. Conditions associated with micrognathia include various abnormalities, and the prognosis of fetal micrognathia is poor, even in chromosomally normal fetuses [1,2]. We report the case of a preterm infant with micrognathia and pulmonary hypoplasia who presented abnormal fetal movements. Case presentation A 27-year-old Japanese primigravida at 33 weeks of gestation was referred to our hospital with polyhydramnios and threatened preterm labor. We observed fetal movements for 90 minutes at 34 weeks 3 days of gestation. The female infant had a birth weight of 1,675 g, with an umbilical artery pH of 7.385. The infant had mandibular hypoplasia and glossoptosis and was diagnosed with PRS. The epithelium of the pulmonary alveoli was thick and dysplastic as well as reduced in number These findings correlated with a lung maturity of 17-24 weeks of gestation. No abnormalities of the internal organs were observed
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