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Arhinia revisited
1Dept. of Otolaryngology, Bikur Holim Hospital, Jerusalem, Israel.
Rhinology
|December 1, 1987
Summary
Arhinia, the congenital absence of the nose, often presents with severe central nervous system and somatic anomalies. This review analyzes associated conditions and proposes a classification for this rare condition.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Surgery
Background:
- Arhinia is a rare congenital anomaly characterized by the complete absence of the nose and olfactory system.
- It is frequently associated with significant central nervous system (CNS) and somatic malformations, leading to a high mortality rate.
Purpose of the Study:
- To analyze reported cases of arhinia based on multiple criteria.
- To identify and categorize associated anomalies.
- To propose a classification system for arhinia.
Main Methods:
- Literature review of twelve reported cases of arhinia.
- Analysis of associated anomalies including CNS, somatic, and facial malformations.
- Review of genetic findings, specifically chromosome 9 anomalies.
Main Results:
- High incidence of associated anomalies: absent olfactory bulbs/nerves, absent paranasal sinuses, high arched/cleft palate, eye anomalies, low-set ears.
- CNS malformations observed in a portion of cases.
- Somatic anomalies reported in 50% of cases; chromosome 9 anomalies noted in two cases.
Conclusions:
- Arhinia is consistently linked with a spectrum of severe congenital anomalies.
- A proposed classification distinguishes between total arhinia (absence of nose and rhinencephalon) and partial arhinia (partial absence of nose).
- Both forms may occur with or without associated facial, CNS, and somatic malformations.