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Related Experiment Videos

Arhinia revisited.

D Cohen1, K J Goitein

  • 1Dept. of Otolaryngology, Bikur Holim Hospital, Jerusalem, Israel.

Rhinology
|December 1, 1987
PubMed
Summary
This summary is machine-generated.

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.

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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.

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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.