Introduction

The absence of an external nose is one of a complex malformation syndrome characterized by the lack of nasal cavities, microphthalmia, high arched palate, coloboma of iris, and microtia[1].The first arrhinia case was reported in 1931[2], and only 43 cases has been reported in worlds English literatures [1,6] .It is believed to be due to mutations in the gene SMCHD1 and It can be associated with facioscapulohumeral muscular dystrophy type 2 [3].

Case Report

A 26 years old woman , Gravida 3 Para 1 was refered from the primary Health center to Sekou Toure Regional referral hospital. She was reffered due to cervical dystocia with prematurity and polyhdramnious. She has one living child and history of abortion at 12 weeks GA in the previous pregnancy. She have 2 antenatal visits and there is no history of family congenital anomalies, medical or previous surgical history.

After admission the clinical assessments and ultrasound was done which revealed the single tone baby at GA of 35 weeks, FHR of 136 bpm and polyhdromnious. The report didn’t reveal the presence of congenital anomalies. During per vaginal examination the cervix was thick 3cm dilated , the presenting part was not felt.

Caesarean section was done, a male baby 2.1kg with low apgar was extracted .On postnatal examination the baby had neither nostril nor nasal chambers, there were no right or left palpable alar cartilage and the baby had nasal dorsum with small central dimple. There was a wide nasal bridge and hypertelorism was noted. The other deformity were noted on hands (polydactyl) and ambiguous genitalia. Resuscitation was done to stabilize the newborn although the condition continued to deteriorate and the baby died after 20 minutes.

Figure 1 Clinical Photograph showing Partial arrhinia

Discussion

Many rare nasal anomalies are associated with genetic syndrome,and some are occurring due known exposure of fetus to teratogenic drugs and environment during critical period of embrogenesis. That results to delay or failure in mesoderm reinforcement of tissues from neural crest [4]. Arrhinia is extremely rare nasal abnormality. It is believed to be caused by mutations in the gene and can be associated with facioscapulohumeral muscular dystrophy type 2 [3].Because arrhinia is exceptionally rare the factor of gene deformity and pathogenesis is still not fully understood. (american [3].The prevalence is unknown, however 43 cases has been reported in words literature[1,6].

The initial management of arrhinia is the same like in choanal atresia. The baby is given time to wait for gaining of mouth reflex , and good coordination of swallowing and breathing during feeding which is approximately 2-3 days of life. It is recommended to do nasal prosthetic without creation of nasal passage[4].The nursing care is very important to the child to facilitate breathing and feeding (America).In early management the surgical correction of nasal airway or tracheostomy tube or placement of orogastric tube can be created [4,6]. Reconstruction of arhinia is very difficult and requires multidisplinary team such as otorhinolaryngologist, cranial facial or plastic surgeons and prosthodontists[4]. If reconstructive attempt is needed are best delayed until midfacial development at age of 5-6 years when mucosal and skin lined flaps from external and transpalatal areas can be rotated [4,8].

Several cases are born without complications and they have normal growth development and reach adult stage without surgical treatment[5,6].However some cases reported clinical consequence of congenital arrhinia such as difficulty in breathing and difficult feeding like how it happened in this case[4,6].As it was reported of good prognosis of several cases of partial arrhinia, the prognosis depends on presence of other anomalies or complications like how it happened in this case where by; the contributing factor for death of this baby was due to birth asphyxia a common complication associated with prematurity which is among the leading cause of neonatal mortality[7]However, the partial arrhinia accelerated its severity.

In this case the diagnosis during prenatal was missed on ultrasound. The mother had poor ANC follow up during pregnancy which is a missed opportunity for early detection of polyhdromnious and other possible assessments. This could have given good opportunity for adequate psychological counseling to the parents. The polydactyl fingers and ambiguous genitalia anomalies has no association with congenital arrhinia and cause of death for the infant. The genetic studies were not possible due to financial constraints and limited resources at our hospital.

Conclusion

The prognosis of this case was poor due to complication of prematurity.Good prognosis in this exceptionally partial arrhinia has been reported in other cases and early management and reconstruction is possible. For women with polyhydramnious there is always suspect of congenital anomalies to fetus, hence thorough assessment and clinical examination during ANC should be done in order to enhance adequate psychological counseling to parents and birth preparedness.1, 2, 3, 4, 5, 6, 7, 8

References

  1. Congenital arhinia: A rare case Hu Kui-kui. American Journal of Case Reports.2014;15:115-118.
  2. Nasal abnormalities, fancied and real Blair Vilray Papin, Brown James Barrett. International Journal of Orthodontia, Oral Surgery and Radiography.1932;18(4):363-401.
  3. Meng L J, Huang Z L, Niu L. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi.2009;44(4):343-387.
  4. Congenital anomalies of the nose Pashley Nrt, Cummings C W, Fredrickson J M, Harker L E. Otolaryngology-Head and Neck Surgery.1993;:702-712.
  5. WHO (2020) Newborns: Improving survival and well being .
  6. Unilateral ArhiniaJournal of Postgraduate Gynecology & Obstetrics Solanke S, Mahanti S, Parulekar S V. Medical College and K.E.M. Hospital.2018.
  7. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome Shaw N D, Brand H, Kupchinsky Z A, Bengani H, Plummer L, Jones T I. .
  8. Simultaneous Construction of an Internal and External Nose in an Infant with Arhinia Mühlbauer Wolfgang, Schmidt Andreas, Fairley Jeffrey. Plastic and Reconstructive Surgery.1993;91(4):720-725.