Baby born with absent nose dies at age two: A review of literature about this extremely rare anomaly

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.