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.