May be associated with hearing loss and secondary speech disorder. Hypertrophied, thickened lobe: lobe disproportionately large for the overall ear size, is thickened and feels fibrotic in the center. Other conditions that may be frequently associated with microtia include:Īuricular cleft (a different entity from the cleft lobe), in a fetus with holoprosencephaly. Microtia-anotia occurs with a number of single gene disorders, such as Treacher-Collins syndrome, or chromosomal syndromes, such as trisomy 18. For instance, microtia-anotia is an essential component of isoretinoin embryopathy, is an important manifestation of thalidomide embryopathy, and can be part of the fetal alcohol syndrome and maternal diabetes embryopathy.

In these cases, microtia-anotia is usually part of a specific pattern of multiple congenital anomalies. Only in a minority of cases has a genetic or environmental cause been found. Microtia-anotia can occur either as an isolated defect or in association with other defects. Gupta et al described large kindred with autosomal dominant inheritance of congenital microtia and auditory meatal atresia with conductive deafness. Most forms are associated with conductive hearing loss. Unilateral microtia, small malformed mandible, epibulbar dermoids, anomalies of the cervical spineĭefinition: Deformed or absent pinna with an atretic ear canal. Unilateral microtia, small malformed mandible The minimal diagnostic criteria and phenotypic spectrum of the variants are:

The term was first described by Gorlin and Pinbord to describe a condition consisting of unilateral microtia, macrostomia and failure of formation of the mandibular ramus and condyle. Pathogenesis: Abnormal development of the first and second branchial arches.Īssociates anomalies: Commonly associated with the following: The condition may range in severity from uncomplicated hereditary microtia transmitted as a dominant and rather harmless trait to severe forms with conductive hearing loss.Įtiology: Non-syndromic microtia has an autosomal dominant transmission in a minority of families. A brief account of these is presented.ĭefinition: Microtia means small ears. They often form part of many chromosomal anomalies and syndromes. Malformations of the auricle and bony meatal atresia are often combined and may be associated with anomalies of the middle and internal ear.

Define auricula of ear