Figure: 2. Non-contrast CT scan of the brain in coronal (A) and sagittal (B) views showing a monoventricle (asterisk), fused cortex (white arrows) and cephalohematoma of the vertex (white arrowheads).
Discussion
Congenital hyporhinia is a rare defect of embryogenesis which is associated with other craniofacial abnormalities such as holoprosencephaly and midline defects 4
The patient had holoprosencephaly with cebocephaly, microcephaly and high arched palate. Orbital anomalies are frequently associated with this condition 5, and our index case had hypotelorism.
Clinical presentation depends on the severity of nasal hypoplasia, and patient with atretic posterior choanae present with severe respiratory distress at birth 4
Our index case had respiratory distress due to presence of atretic posterior choanae where oral airway and oxygenation was initiated, also there was ongoing discussion with the family about tracheotomy
Prenatal diagnostic advances have greatly improved the possibility of early detection of congenital anomalies. This gives not only an opportunity to plan and improve perinatal care but also offers the option to terminate the pregnancy for cases in which the prognosis is likely to be poor6but this was not possible in our case.
Surgical reconstruction is usually delayed until preschool years around 6 years when facial development is nearly complete but due to associated malformations management controversies regarding timing and surgical techniques7
Conclusion
Congenital hyporhinia or partial arhinia is an extremely uncommon entity with only four cases previously reported in the literature, usually associated with other craniofacial malformations as our case which was associated with holoprosencephaly with cebocephaly which indicate a poor prognostic factor.
Nasal reconstruction during child hood is a surgical challenge, due to infrequent of this pathology and associated malformations hence management controversies regarding timing and surgical techniques.