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International Birth Defects Information Systems
Deaf - Deafblind - Anotia

International Birth Defects Information Systems



Deaf - Deafness Related
Deafblind - Anotia


Topics: | Aural Atresia | Ear anomalies | Hearing Impairment | Microtia |

Related Topics : | CMV | Craniofacial | Craniosynostosis | Crouzon | Facial Clefts | Goldenhar Hemifacial Microsomia | Pendred | Pierre Robin | Treacher Collins | Velo Cardio Facial |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Spanish | Ukrainian |

MICROTIA-ANOTIA
Visitor Comments [for Professionals mainly]
Microtia anotia (M A) can occur either as an isolated defect or in association with other defects ... in a minority of cases has a genetic or environmental cause been found ... usually part of a specific pattern of multiple congenital anomalies ... is an essential component of isotretinoin embryopathy ... prenatal alcohol syndrome ... Goldenhar syndrome ... Mastroiacovo et al. (1995) studied the epidemiology and genetics of microtia-anotia from the Italian Multicenter Birth Defects Registry from 1983 to 1992. Among 1,173,794 births, they identified 172 with M-A, a rate of 1.46/10,000; 38 of the 172 infants (22.1%) had anotia ... 66.2% had an isolated defect, 48 (27.9%) were multimalformed infants ... The frequency of bilateral defects among nonsyndromic cases was 12% compared to 50% of syndromic cases ... only holoprosencephaly was preferentially associated with M-A ... Mothers with parity 1 had a higher risk ... Mothers with insulin-dependent diabetes were at significantly higher risk for having a child with M-A. Mastroiacovo et al. (1995) suggested autosomal dominant inheritance with variable expression and incomplete penetrance 'in a proportion of cases,' or multifactorial etiology ... Gupta and Patton (1995) described a large kindred with autosomal dominant inheritance ...

MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS
Visitor Comments [for Professionals mainly]
Ellwood et al. (1968) reported 2 sibships: the first, with first-cousin parents, included a brother and sister with bilateral anotia and meatal atresia; the other included 2 brothers, one with unilateral microtia and bilateral meatal atresia and the other with unilateral microtia and meatal atresia ... Guizar-Vazquez et al. (1978) described a mother with microtia and meatal atresia on the right, whose son had the same combination on the left. Both had some macrostomia and facial asymmetry, but features of Goldenhar syndrome (164210) and Treacher Collins syndrome (154500) were missing ...

ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS
Visitor Comments [for Professionals mainly]
Hefter and Ganz (1969) described this combination in a woman and 3 of her 4 children ... Robinow and Jahrsdoerfer (1979) observed an extensively affected kindred with several instances of male-to-male transmission. Stenosis rather than atresia of the auditory canal was present in some ...

DeafBlind International
DbI, 2007
Visitor Comments "Good source to look for help and guidance ... development of services to enable a good quality of life for deafblind people."
The world association promoting services for deafblind people.

U.S.A. Organizations for Deafblind People
Visitor Comments "This website is amazing ... Great for ... patients seeking support."
Alabama Institute for Deaf & Blind (AIDB), Alaska Center for Blind and Deaf Adults, American Association of the Deaf-Blind (AADB), Arizona Deafblind Project ...

Newborn and Infant Hearing Loss: Detection and Intervention (RE9846)
American Academy of Pediatrics, PEDIATRICS Vol. 103 No. 2 February 1999, pp. 527-530
Visitor Comments [for Professionals mainly] "Good ... reliable."
This statement endorses the implementation of universal newborn hearing screening ...

CDC Centers for Disease Control & Prevention
CDC, National Center on Birth Defects and Developmental Disabilities, October 29, 2004
Genetics of Congenital Hearing Impairment ... Abstracts ... Genetic Testing for Hearing Impairment- Are we ready? ... The Landscape of Early Hearing Detection in the United States ...

American Tinnitus Association
American Tinnitus Association, 2007
Visitor Comments "Good source ... "
Non-profit organization dedicated to promoting the relief, prevention ...

Microtia - Congenital Ear Institute
Dr. J. Arturo Bonilla, M.D. et al, Microtia-Congenital Ear Institute, 2004
Visitor Comments "... for someone considering surgical "repair" of Microtia or other treatment options ..."
Microtia - Congenital Ear Institute evaluates and operates hundreds of children born with a congenital ear deformity known as microtia/atresia ...

The Epidemiology of Anotia and Microtia.
Harris, J. Kallen et al., Journal of Medical Genetics. 1996, 33(10), 809-813
We studied a large data set from three registries of congenital malformations ... from 0.76 per 10,000 births in the French ... 2.35 in the Swedish. Within the California program, there is a racial variability in prevalence with lower values among whites (and probably blacks) than in Hispanics and Asians ... In unilateral cases, the right side is more frequently malformed than the left side, especially when the ear malformation is isolated. There is a male excess, most pronounced in isolated forms. Among associated malformations, facial clefts and cardiac defects are the most common ones (each about 30% of infants with associated malformations) ...

Prevalence of Childhood Hearing Loss - The Hispanic Health and Nutrition Examination Survey and the National Health and Nutrition Examination Survey II
Lee, DJ., et al., American Journal of Epidemiology. 1996, 144(5), 442-449.
The prevalence (per 1,000) of bilateral hearing loss was 17.0 for African-American, 68.3 for Cuban-American, 27.6 for Mexican-American, 57.7 for Puerto Rican, and 15.5 for non-Hispanic white children ...

Ear Molds: An Alternative to Otoplasty
Since there’s no shortage of skin or cartilage in the prominent ear deformity, it is perfectly amenable to early diagnosis and correction with ear molds, best started in the first week following birth. If the opportunity for molding is missed or fails, surgical correction of the prominent ear deformity is generally deferred until 3 to 5 years of age. We prefer correction at approximately 5 years of age since 90% or greater of ear growth has occurred by that age. With the growth of the ear completed at the time ear pinning surgery is performed, we believe there is less error in obtaining a precise adjustment to the projection of the ear.

Microtia
OMNI-Net Ukraine, February 5, 2002
Visitor Comments [for Professionals mainly] [Ukrainian]

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Last Updated: 2023/02/20

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American Medical Association