The development and embryology of the eye, ear, and nose are described. Importantly, the genetic and molecular control of ocular development is well advanced and informs much of the pathology of many ocular disorders. Ocular disorders—e.g., anophthalmia/microphthalmia and cryptophthalmos—are often part of a syndrome. A major disability following preterm delivery is retinopathy of prematurity. Congenital hearing loss is one of the most frequent birth defects; and genetic causes account for a significant proportion of these, many being syndromal. Ciliopathies can be a cause of ocular and olfactory deficits. Abnormalities of the periorbital tissues, nose, and ear can point to pathology elsewhere or be syndromal.


Eye Ear Nose Syndrome Microphthalmia Anophthalmia Cryptophthalmos Retinoblastoma Retinopathy of prematurity Hearing loss 


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© Springer International Publishing 2015

Authors and Affiliations

  1. 1.Department of Pathology and Department of Obstetrics and GynaecologyUniversity of AdelaideNorth AdelaideAustralia
  2. 2.Department of HistopathologyWomen’s & Children’s HospitalNorth AdelaideAustralia

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