Baby Eli who
was born with a absent nose died recently at age two. Absent nose or Arhinia is
congenital absence of external nose, nasal cavities, and olfactory apparatus.
It is extremely rare craniofacial anomaly with 47 reported cases in history of
medicine. It was first described in the French literature in the 1800’s.
Baby Eli
received a tracheotomy on day 5 of his birth and was learning to communicate
with the help of sign language.
It is
associated with other anomalies of central nervous system and genital and hormonal
problems
Phenotypically
it may present in a less sever form like hyporhinia, manifested as lack of
external nasal structures.
Embryologically,
formation of external nose and bony canal is completed between 3 to 8 weeks of
intrauterine life. It occurs because of failure of maxillary and lateral nasal
process, along with cribriform plate anomaly resulting in olfactory agenesis.
Chromosomal aberration
such as inversion and trisomy 9 have been found in some cases of arrhinia. It
may present as a part of syndrome or an isolated entity. The syndrome it is
associated with is Bosma arhinia microphthalmia (BAM) syndrome. The Syndrome has
3 major features: 1) complete absence of the nose, 2) eye defects, and 3)
absent sexual maturation.
Antenatal Ultrasound,
preferably 3D can detect it earliest by 12 to 16 weeks of gestation. So far,
antenatal diagnosis was possible in only one case. If diagnosed at appropriate gestational
age, parents can have a choice of termination of pregnancy as prognosis of such
children is poor in terms of mental and physical development as well as
cosmetic and functional outcomes.
Arhinia is apparent
at birth, with only a depression located between the eyes and mouth (at the
normal position of the external nose)
The
management at birth involves creating a functional airway and dealing with the
feeding difficulties. Neonates are obligate nasal breathers, so the
simultaneous action of sucking and breathing leads to respiratory distress. In these neonates, the maxilla is
underdeveloped with a high arch palate.
Surgically
created nasal airway or tracheotomy forms an important part of management at
birth.
Surgical
reconstruction begins at 4-5 years of age and completed near puberty. Now it is
possible to create much more cosmetically appealing nose because of newer nasal
prostheses for these children.
Most patient will require ongoing medical care
by a team of medical and surgical sub-specialists, including plastic or
maxillofacial surgeons, ophthalmologists, and endocrinologists.
Tessa Evans
was another baby born in Ireland with Arrhinia, undergone pioneering surgery in
which a custom-built 3D printed mould was inserted into her face, to stretch
her skin and slowly build the missing facial feature.
Her arrhinia
was diagnosed antenatally at 20-weeks, with a follow up 3D scan revealed no
other abnormalities. Her parents decided to continue the pregnancy.
