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Year : 2014  |  Volume : 3  |  Issue : 4  |  Page : 228-229

Congenital partial arhinia: A rare malformation of the nose coexisting with intracranial arachnoid cyst

Department of ENT, Tata Main Hospital, Jamshedpur, Jharkhand, India

Date of Web Publication14-Nov-2014

Correspondence Address:
Binayak Baruah
Department of ENT, Tata Main Hospital, Jamshedpur - 831 001, Jharkhand
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Source of Support: Tata Main Hospital, Jamshedpur, Jharkhand, India, Conflict of Interest: None

DOI: 10.4103/2249-4847.144758

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Arhinia is the congenital partial or complete absence of the soft tissue of the nose and nasal structures. It is an extremely rare defect of embryogenesis and is generally associated with other craniofacial anomalies like arachnoid cysts and also midline defects such as cleft palate, absence of paranasal sinuses, and other palatal and ocular abnormalities. Less than 40 patients with arhinia have been reported so far in the history of modern medicine. We report herein a patient with congenital partial arhinia with intracranial arachnoid cyst and discuss the embryology and review of literature of such a rare disease

Keywords: Congenital, partial arhinia, arachnoid cyst

How to cite this article:
Baruah B, Dubey K P, Gupta A, Kumar A. Congenital partial arhinia: A rare malformation of the nose coexisting with intracranial arachnoid cyst. J Clin Neonatol 2014;3:228-9

How to cite this URL:
Baruah B, Dubey K P, Gupta A, Kumar A. Congenital partial arhinia: A rare malformation of the nose coexisting with intracranial arachnoid cyst. J Clin Neonatol [serial online] 2014 [cited 2020 Jul 7];3:228-9. Available from: http://www.jcnonweb.com/text.asp?2014/3/4/228/144758

Congenital partial arhinia or hyporhinia is an extremely uncommon congenital nasal anomaly. About 40 cases of the congenital arhinia that have been reported in the English literature since 1931, four of which were congenital hyporhinia. [1],[2] The cause is still unknown, most cases are sporadic, but also few familial cases have been reported. [3] This anomaly is usually found to be associated with other malformations involving the craniofacial area, palate clefts, ear defects, and central nervous system. Problems with feeding, severe airway, and phonetics usually accompany congenital hyporhinia in the pediatric age. [1] Considering the rarity of the disease, we report a case of congenital partial arhinia associated with huge intracranial arachnoid cyst.

Attention of otorhinolaryngologist was drawn to review a 1-month-old full term female neonate, with nasal malformation delivered via cesarean section to 34-year-old para 2 mother. Parents were not consanguineously married. Mother had no significant drug or radiation exposure history during her pregnancy, and remained well throughout. She had no other complications such as gestational diabetes, thyroid dysfunction, or hypertension. No, past bad obstetric history. Examination revealed birth weight of 2 kg, birth length of 49 cm and head circumference of 35 cm. External nasal pyramid was hypoplastic with a centrally placed single anterior nasal nare. Columella and nasal septum were absent [Figure 1]. Insertion of nasogastric tube revealed anterior nare leading to 5 mm deep single nasal cavity with atretic posterior choanae. No palatal abnormalities seen. Computed tomography scan brain revealed a huge posterior fossa arachnoid cyst causing compression of adjacent structures [Figure 2]. Echocardiography did not reveal any abnormality.

In 2003, Joseph et al. have reported a new classification system dedicated solely to congenital nasal anomalies. It takes its origins from Whitaker's classification scheme for craniofacial deformities All congenital nasal anomalies were classified into:

Type I: Hypoplasia and atrophy

Type II: Hyperplasia and duplication

Type III: Clefts

Type IV: Neoplasm and vascular anomalies.

The present report falls into Type I classification scheme which in fact is the most common type accounting for nearly 62% of all cases.

Olsen and associates reviewed the literature through 2001 and collected 22 additional cases. McGlone collected 27 cases until 2003 and investigated the common abnormalities. [1] As was true in our case, most of the collected cases had an uneventful antenatal history.

Congenital partial or complete arhinia is an extremely rare entity. Facial anomalies and other concomitant distant anomalies may be present. These patients experience serious problems in respect to an open airway and feeding. Considering the life-threatening condition of the patient and the emotions attached with it, a detailed discussion and counseling is required with the parents and also about the risk assessment for future pregnancies.

  References Top

1.McGlone L. Congenital arhinia. J Paediatr Child Health 2003;39:474-6.  Back to cited text no. 1
2.Robert MG, Manuel GV, Adolfo BC, Elina EM. Congenital partial arhinia with no associated malformations. Int J Pediatr Otorhinolaryngol Extra  2009;4:162-4.  Back to cited text no. 2
3.Hou JW. Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2). Am J Med Genet A 2004;130A: 200-3.  Back to cited text no. 3


  [Figure 1], [Figure 2]


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