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Newborn with transverse facial cleft associated with polyhydramnios
Yoshio Shima1, Koichi Ogawa, Yoshimitsu Kuwabara
1Department of Neonatal and Premature Medicine, Japanese Red Cross Katsushika Maternity Hospital, Tokyo, Japan.
Summary
This case report details a newborn with severe facial clefts and breathing difficulties. The condition was linked to a brain anomaly affecting swallowing and breathing reflexes.
Area of Science:
- Medical Case Reports
- Neonatal Medicine
- Clinical Genetics
Background:
- Congenital anomalies present unique diagnostic and management challenges in neonates.
- Facial clefts, particularly severe forms, require comprehensive evaluation for associated abnormalities.
Observation:
- A female neonate presented with bilateral complete transverse facial clefts, macrostomia, microphthalmia, and auricular deformities.
- Prenatal ultrasound identified polyhydramnios from 28 weeks' gestation without fetal hydrops.
- The infant required life support for respiratory function shortly after birth.
Findings:
- Autopsy revealed no major congenital malformations in vital organs.
- A significant finding was the absence of olfactory nerves.
- Polyhydramnios and neonatal respiratory arrest were attributed to central nervous system dysfunction affecting swallowing and breathing.
Implications:
- This case highlights the importance of thorough autopsy in neonates with complex congenital anomalies.
- Understanding the central mechanisms underlying swallowing and breathing deficits is crucial for managing such cases.
- Further research into brain anomalies associated with facial clefts and polyhydramnios is warranted.