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Microtia

Microtia (MI) is a congenital condition characterized by an underdeveloped auricle, often accompanied by a narrowed or completely absent external auditory canal (atresia). MI can present as a unilateral and bilateral disorder potentially leading to significant hearing loss. Computer tomography will reveal potential atresia and possible further occult malformations of the middle ear. Prescription of hearing aids is strongly advised in patients with impaired hearing.


Presentation

Due to evident auricle deformations, most patients present as infants or children with significant hearing loss (40-60 dB). Microtia (MI) usually affects one ear and manifests as a non-syndromic condition in up to eighty percent of cases. Ten percent of diagnosed patients suffer from bilateral MI [1].

MI manifestations have been categorized in four grades. Grade I MI features a normal but small ear anatomy with a narrowed or absent external auditory canal. Grade II MI presents with an underdeveloped auricle, particularly in upper auricle parts, and usually with atresia. In Grade III MI, the auricle is generally underdeveloped and the external auditory canal is absent. Grade IV MI patients do not present with residual ear structure (anotia) and always suffer from atresia [1].

In twenty up to sixty percent of diagnosed cases, MI can also be found in a syndromic context, e.g. in hemifacial or craniofacial microsomia, Goldenhar Syndrome (GS), Townes-Brocks Syndrome, Nager Syndrome and in mandibulofacial dysostosis. MI occurs more often in males as a unilateral condition [2] [3] [4] [5]. In a syndromic MI manifestation, additional symptoms may include renal, cardiac and vertebral anomalies [6].

MI often presents as a mild form of GS and share the following characteristics: variable phenotypic expression, asymmetric facial anatomy, right side preponderance, male predilection, and familial occurrence within an sporadic or autosomal dominant (rarely recessive) inheritance mechanism [3] [7] [8] [9].

Facial asymmetry, malocclusion, facial nerve palsy, and macrostomia as well as thoracic deformities can also accompany MI [10].

Genu Valgum
  • CASE CHARACTERISTICS: 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year. OBSERVATION: Homozygous novel missense mutation in fibroblast growth factor 3.[ncbi.nlm.nih.gov]
Sparse to No Eyebrows
Ear Deformity
  • The Microtia – Congenital Ear Deformity Institute has evaluated and performed thousands of surgeries in order to correct children’s ear deformities.[microtia.net]
  • All ears were graded based on the severity of ear deformity using the Jahrsdoerfer system, based on findings on computed tomography of the temporal bone. Electrogustometry (EGM) was performed to evaluate CTD.[ncbi.nlm.nih.gov]
  • Medications associated with ear deformities include thalidomide, clomiphene citrate, and retinoic acid. D. Five percent of cases have an immediate family member with a major ear deformity. E.[slideshare.net]
  • Signs and symptoms Patients with microtia will have a partial ear deformity or complete lack of an ear, with varying degrees of hearing loss. Tests, treatments Patients are given a hearing test first.[ufhealth.org]
Hearing Problem
  • CONCLUSIONS: The surgical procedure involving auricle reconstruction and Bonebridge implantation was safe and effective for patients with bilateral microtia-atresia, solving both appearance and hearing problems. Copyright 2017.[ncbi.nlm.nih.gov]
  • When accompanied by a missing ear canal it also can cause hearing problems and difficulty telling which direction a sound comes from. Microtia usually affects one ear but can occur in both ears.[my.clevelandclinic.org]
  • Some babies are born without an external ear canal or an abnormal outer ear, which can cause hearing problems. Atresia This lack of development of the external ear canal is called congenital atresia.[hear-it.org]
  • When abnormalities such as microtia and atresia are apparent at birth, or when other hearing problems are detected during the screenings, medical professionals can help you decide which treatment options are best and direct you to the resources needed[healthyhearing.com]
  • If your child has a hearing problem related to microtia, she/he will be followed by an audiologist (hearing specialist) and an otolaryngologist (ear, nose and throat expert).[childrenshospital.org]
Hearing Impairment
  • Such patients typically require treatment for surgical ear reconstruction and for hearing impairment. Maintenance of ear projection and post auricular sulcus in staged ear reconstruction in microtia is a trying problem.[ncbi.nlm.nih.gov]
  • It can also be associated with hearing impairment. What are microtia care options? Reconstructive surgery can be used to reconstruct an esthetically pleasing ear. Hearing impairment is often addressed with the use of a hearing aid.[nicklauschildrens.org]
  • Objectives The present study was designed with the following aims: (i) identification of the genetic etiology and patterns of inheritance of microtia for proper genetic counseling; (ii) early detection and identification of associated hearing impairment[ejo.eg.net]
  • Abstract This paper presents the data from medical and educational case histories on a group of 60 unilaterally hearing-impaired children.[doi.org]
  • Treatment of Microtia The treatment opted for microtia depends on the extent of deformity and the severity of hearing impairment.[epainassist.com]

Workup

Initial clinical evaluation requires a correct categorization of MI based on presented auricle underdevelopment and atresia, which are both possible unilaterally or bilaterally. If patient history reveals a possible syndromic manifestation within a familial accumulation of MI, it is reasonable to examine for renal, cardiac, cervical, lumbar spine or thoracic anomalies using ultrasound or radiographic procedures, respectively [10].

External auditory canal status can be diagnosed within an otoscopic examination and found to be normal, stenotic, blindly ending or atretic. In any case, standard audiologic tests are the strongly advised for both ears to appropriately assess hearing function. More elaborate audiologic tests like auditory brainstem response (ABR), pure tone audiometry (PTR) may also be necessary in selected cases [11].

A non-contrast temporal bone computer tomography (CT) scan is almost always advisable, since it resolves the grade of atresia and potential further malformations best and guides. If a patient presents with craniofacial microsomia, three-dimensional CT scans may provide good insights for subsequent surgical measures [11].

Treatment

An optimal treatment of MI depends on the diagnosed grade and nature (unilateral, bilateral). External auricle underdevelopment can be corrected with cosmetic surgery, while anatomic anomalies of the external auditory canal and the middle ear must be tackled within auditory surgery and typically involves canaloplasty as well as ossicle and tympanic reconstruction, if necessary. These procedures will require up to three surgical interventions under general anaesthesia, which may be too much of a health strain for the MI patient [1].

Pinna reconstruction can start in children older than six but may be postponed in selected cases, if the child is still too small at this age, since the surgeon will have to harvest a rib of appropriate size for framework grafting in the context of the natural cartilage technique [1].

The use of alloplastic implants made of porous polyethylene or of prosthetics may also be considered [12] [13].

In infants with pronounced hearing loss as well as MI patients who refuse to undergo above-mentioned reconstruction surgery the use of hearing aids will help to partly recover hearing function. For pre-lingual infants the prescription of such hearing aids is most advisable in order to allow for proper speech development [14].

Prognosis

Since hearing function can be significantly impaired (40-60 dB) in the affected ear, bilateral MI is a serious diagnosis which requires hearing aids in infants to guarantee speech development. If MI is unilateral, speech development in children should be normal.

The main impact of untreated unilateral MI is psychological. Children older than four and particularly teenagers suffering from untreated MI may suffer from low self-esteem, anxiety, increased peer pressure and social isolation due to the evident anatomic deformations. This effect may be even more pronounced in syndromic MI manifestations like GS.

Teenagers are usually more enthusiastic about reconstructive surgery than younger children but may be unrealistic in their expectations. Proper professional counselling and parental care are advised in any case.

Surgical reconstruction typically provides excellent perspectives for recovered hearing and satisfying auricle aesthetics.

Etiology

The cause of MI can be genetic in syndromic MI manifestations, related to irregularities during pregnancy [15] [16] or possibly related to neural crest cells disturbance, vascular disruption or the altitude of maternal residence during pregnancy [1].

Genetic causes are more likely to be Mendelian in syndromic and familial MI manifestations, whereas sporadic cases are typically polygenetic and/or multifactorial [1].

Specific pregnancy-related risk factors are a maternal rubella infection during the first trimester of pregnancy [15] [16]. Further risk factors include low birth weight, high maternal parity, maternal use of medication, advanced maternal age, multiple births and maternal diabetes mellitus. Maternal intake of folic-acid-containing supplements may also promote MI manifestation [17].

Epidemiology

Reported MI prevalence ranges from 0.83 up to 17.4 in 10 000 births and has been shown to be higher in Hispanics, Asians, Native Americans and Andeans [1].

MI is more frequent in males, who are at an increased risk of twenty to forty percent to suffer from MI. 77-93% of diagnosed MI is unilateral, 60% of these cases concern the right ear. Bilateral MI is more common in syndromic cases [1] [2] [4] [18] [19] [20] [21] [22].

Sex distribution
Age distribution

Pathophysiology

The anatomy of the affected ear in infant patients resembles the ear of an embryo after six weeks of development. The exact molecular reasons for a stalled development are unknown and currently in the focus of research.

To date, a disturbance of neural crest cells has been shown to be related to numerous craniofacial syndromes [23]. In mandibulofacial dysostosis, TCOF1 mutations are suspected to cause insufficient cell proliferation and increased neuroepithelial apoptosis resulting in a reduced migration of cells into the first and second pharyngeal arches, which is conducive to a craniofacial phenotype including bilateral MI [24].

Vascular disruption is also a possible cause for microtia. Early perturbations of development of the vascular system of the head and neck may lead to tissue necrosis [25].

Increased MI prevalence at high altitudes [2] still poses a major conundrum for researchers.

Prevention

Hereditary and sporadic MI cannot be prevented. Maternal caution during pregnancy can, however, reduce the odds of MI manifestation in the progeny. Avoiding infections with rubella [15] [16] and drug abuse as well as maintaining a healthy diet should have a positive effect. Women should not suffer from diabetes mellitus before and during pregnancy to prevent MI manifestation [26]. Maternal diet during pregnancy should not be low in carbohydrates and folic acid. Intake of folic acid may, however, reverse the effect [17].

Summary

Microtia is a congenital condition presenting with underdeveloped or absent auricle as well as malformed or absent external auditory canal. Patients are usually infants or children. MI can have genetic or pregnancy-related causes and mostly appears as an isolated symptom affecting the right ear in males. Otoscopic examinations, audiometric checks and CT scans of the temporal bone should be performed. Reconstructive surgery can be taken in consideration for children older than six. Prescription of hearing aids is imperative for pre-lingual infants with diagnosed hearing loss to ascertain proper speech development.

Patient Information

Microtia is an innate condition which is characterized by malformations or the complete absence of one or both ears. The inner parts of the ear can also be affected. In this case, substantial hearing loss is a major symptom. Patients should seek professional help in any case because the psychological effects of a malformed ear can be detrimental. Doctors will recommend reconstructive surgery and may prescribe hearing aids, particularly in infants with diagnosed hearing loss.

References

Article

  1. Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC. Microtia: Epidemiology & Genetics. Am J Med Genet A. 2012; 158A(1): 124–139.
  2. Castilla EE, Orioli IM. Prevalence rates of microtia in South America. Int J Epidemiol. 1986; 15(3):364–368.
  3. Kaye CI, Rollnick BR, Hauck WW, Martin AO, Richtsmeier JT, Nagatoshi K. Microtia and associated anomalies: statistical analysis. Am J Med Genet. 1989; 34(4):574–578.
  4. Mastroiacovo P, Corchia C, Botto LD, Lanni R, Zampino G, Fusco D. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet. 1995; 32(6):453–457.
  5. Shaw GM, Carmichael SL, Kaidarova Z, Harris JA. Epidemiologic characteristics of anotia and microtia in California, 1989-1997. Birth Defects Res A Clin Mol Teratol. 2004; 70(7):472–475.
  6. Heike CL, Hing AV. Craniofacial Microsomia Overview. In: Pagon RA, Adam MP, Ardinger HH, et al eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993-2017. https://www.ncbi.nlm.nih.gov/books/NBK5199/#!po=2.17391 Accessed April 28, 2017.
  7. Llano-Rivas I, Gonzalez-del Angel A, del Castillo V, Reyes R, Carnevale A. Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City. Arch Med Res. 1999; 30(2):120–124.
  8. Rollnick BR, Kaye CI. Hemifacial microsomia and variants: pedigree data. Am J Med Genet. 1983; 15(2):233–253.
  9. Tasse C, Bohringer S, Fischer S, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005; 48(4):397–411.
  10. Wu R, Jiang H, Chen W, et al. Three-dimensional chest computed tomography analysis of thoracic deformities in patients with microtia. J Plast Reconstr Aesthet Surg. 2015; 68(4):498-504.
  11. Lipan MJ, Eshraghi AA. Otologic and Audiology Aspects of Microtia Repair. Semin Plast Surg. 2011; 25(4): 273–278.
  12. Constantine KK, Gilmore J, Lee K, Leach J Jr. Comparison of microtia reconstruction outcomes using rib cartilage vs porous polyethylene implant. JAMA Facial Plast Surg. 2014; 16(4):240-244.
  13. Cabin JA, Bassiri-Tehrani M, Sclafani AP, Romo T III. Microtia reconstruction: autologous rib and alloplast techniques. Facial Plast Surg Clin North Am. 2014; 22 (4):623-638.
  14. Kuppler K, Lewis M, Evans AK. A review of unilateral hearing loss and academic performance: Is it time to reassess traditional dogmata? International Journal of Pediatrics and Otorhinolaryngology. 2013; 77(5): 617-622.
  15. Brent B. The correction of mi-rotia with autogenous cartilage grafts: I. The classic deformity. Plast Reconstr Surg. 1980; 66(1):1-12.
  16. Poswillo D. Otomandibular deformity: Pathogenesis as a guide to reconstruction. J Max Fac Surg. 1974; 2:64-72.
  17. Ma C, Shaw GM, Scheuerle AE, Canfield MA, Carmichael SL, National Birth Defects Prevention Study. Association of microtia with maternal nutrition. Birth Defects Res A Clin Mol Teratol. 2012; 94(12):1026-1032.
  18. Canfield MA, Langlois PH, Nguyen LM, Scheuerle AE. Epidemiologic features and clinical subgroups of anotia/microtia in Texas. Birth Defects Res A Clin Mol Teratol. 2009; 85(11):905–913.
  19. Forrester MB, Merz RD. Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002. Congenit Anom. 2005; 45(4):119–124.
  20. Nelson SM, Berry RI. Ear disease and hearing loss among Navajo children--a mass survey. Laryngoscope. 1984; 94(3):316–323.
  21. Suutarla S, Rautio J, Ritvanen A, Ala-Mello S, Jero J, Klockars T. Microtia in Finland: comparison of characteristics in different populations. Int J Pediatr Otorhinolaryngol. 2007; 71(8):1211–1217.
  22. González-Andrade F, López-Pulles R, Espín VH, Paz-y-Miño C. High altitude and microtia in Ecuadorian patients. Journal of Neonatal-Perinatal Medicine. 2010; 3(2):109–116.
  23. Passos-Bueno MR, Ornelas CC, Fanganiello RD. Syndromes of the first and second pharyngeal arches: A review. Am J Med Genet A. 2009;149A(8):1853–1859.
  24. Trainor PA. Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. Am J Med Genet A. 2010; 152A(12):2984–2994.
  25. Sadler TW, Rasmussen SA. Examining the evidence for vascular pathogenesis of selected birth defects. Am J Med Genet A. 2010; 152A(10):2426–2436.

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Last updated: 2019-07-11 22:47