摘要
Congenital arhinia is a very rare condition especially when it is isolated. Most of arhinia are identified after birth and only five prenatal cases are described in the literature. Generally, arhinia is associated with other malformations mainly craniofacial anomalies. Genetics aberrations are uncommon. Our case was diagnosed in the second trimester of pregnancy and we found no associated anomaly except for a single umbilical artery. Autopsy confirmed the diagnosis and neuropathology analysis revealed the absence of olfactory bulbs and tracts.
Congenital arhinia is a very rare condition especially when it is isolated. Most of arhinia are identified after birth and only five prenatal cases are described in the literature. Generally, arhinia is associated with other malformations mainly craniofacial anomalies. Genetics aberrations are uncommon. Our case was diagnosed in the second trimester of pregnancy and we found no associated anomaly except for a single umbilical artery. Autopsy confirmed the diagnosis and neuropathology analysis revealed the absence of olfactory bulbs and tracts.
