Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant
A premature infant with gestational age 36+4 weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and asymmetric face with micrognathia and hypertelorism were detected. Therefore, cyto...
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| Format: | Article |
| Language: | English |
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Kosin University College of Medicine
2018-06-01
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| Series: | Kosin Medical Journal |
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| Online Access: | http://www.kosinmedj.org/upload/pdf/ksmc033-01-14.pdf |
| Summary: | A premature infant with gestational age 36+4 weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and asymmetric face with micrognathia and hypertelorism were detected. Therefore, cytogenetic analysis was performed, and his karyotype was 46, XY, del(5) (p14p15.33). Pontine hypoplasia was detected on cranial magnetic resonance imaging (MRI). Therefore, karyotyping and cranial MRI should be performed in case of preterm infants with suspicion of Cri-du-chat syndrome (CdCS). |
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| ISSN: | 2005-9531 |