A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Microtia-Anotia. In this paper, the term “microtia” includes anotia as the most severe end .. Several cases reports of mosaicism 46,X,der(Y)t(Y;1)(q12;q21)/ Microtia-anotia is a spectrum of congenital anomalies of the auricle ranging from mild [PubMed]; Okajima H, Takeichi Y, Umeda K, et al.

Author: Tygoran Shaktile
Country: Saint Kitts and Nevis
Language: English (Spanish)
Genre: Science
Published (Last): 19 August 2004
Pages: 284
PDF File Size: 17.49 Mb
ePub File Size: 8.82 Mb
ISBN: 680-8-25922-742-7
Downloads: 6304
Price: Free* [*Free Regsitration Required]
Uploader: Zulutaur

Author manuscript; available in PMC Jan N Engl J Med.

Rib Graft Surgical Photos: These geographical areas were named and defined according to the United Nations Statistic Division Classification http: However, the presence of a large number of copies in some genetic regions also can give rise to microtia, as observed in trisomy 13 and 18, but also by the presence of CNV consisting of five copies of a kb amplicon located on the short arm of chromosome 4.

Am J Hum Biol. Aase and Tegtmeier, ; Jaffe, Clinical profile of a cohort of Silver-Russell syndrome Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: Am J Reprod Immunol. Hermann Marx published the first system, named the Marx classification, in and it remains one of the most frequently used systems [ Marx, ].

Additionally we strongly suggest modifications in ICD classification to achieve better phenotypic classification of microtia-anotia. We need long-term secure funding to provide you the information that you need at your fingertips.

Similarly, Forrester and Merz found four cases with trisomy 18 in 41 patients with microtia. For most surveillance programs here analyzed the prevalence was similar to reports from earlier population-based studies conducted in Italy, France, Sweden, Finland and United States Canfield et al.


Clinical profile of a cohort of Silver-Russell syndrome Some authors consider microtia microttia be the minimal expression of this disorder. In the majority of cases, a multifactorial etiology microotia established.

Prenatal exposure to misoprostol and vascular disruption defects: Dysregulation of these signaling pathways triggered by genetic or environmental factors constitutes a potential source of under- or maldevelopment. The genetic and cellular mechanisms underlying normal morphogenesis of the external ear is not completely understood. The neural crest cells NCC are a transitory group of pluripotent cells that originate from the dorsal part of the embryonic neural tube: Microtia-atresia must be considered as a major malformation with important repercussions in hearing function requiring multidisciplinary medical care in order to limit the disability associated and to provide genetic counseling.

A Type III with auricular skin tag arrow. The journal’s production is being transferred to another publisher.

This controversy remains unsettled. Intra-uterine growth restriction and increased frequency of preeclampsia and stillbirths are more common in populations living at high altitude than those at low altitude.


An important confounder, however, is that altitude may mivrotia agricultural production and thus increase costs of transporting fresh food products. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Detailed description of external ear malformations would enable future reassessment of this information and re-classification if necessary to aggregate cases in multiple miicrotia. Continuing navigation will be considered as acceptance of this use. It has an autosomal dominant pattern of inheritance. This review focuses on malformations of the external ear, and more specifically of the auricles, which are collectively termed microtia.

Oculo-auriculo-vertebral spectrum OAVSis characterized by facial asymmetry, microtia, ear and facial tags, epibulbar dermoids, microphthalmia, and macrostomia.

Inheritance of microtia in the Finnish population. Changes in these genes or in their interactions can lead to the presentation of the malformation. Given the loss of one of the chromosomal regions of 22q Other familial cases with syndromic microtia have also been reported.


In this study we extended the analysis to surveillance programs based on Spanish anitia countries, like Spain, Costa Rica, Cuba and most countries of South America. The number of genes implicated in the development of the external ear and the fact that their dysfunction could cause microtia increases because the HOX genes, in turn, could be regulated by another type of genomic component such as microRNA miRNA.

A subsequent study that included Quito and the other two other large high altitude cities of South America, La Paz Bolivia and Bogota Colombiaalso revealed a higher prevalence of microtia as well as oral clefts, congenital heart disease and limb defects [ Castilla et al. Looking For More References? Human genetics studies Microtia has been reported in individuals with autosomal trisomies, such as trisomy 18 Figure 221, and 22, as well as with mosaicism of trisomy 13 and 18 [ Giannatou et al.

Once the patient has microti optimal health status and growth conditions, a surgical procedure may be considered that would reconstruct the ear.

Microtia & Atresia

This wide range in prevalence may be due to variation among the studies in case inclusion criteria and case ascertainment. Comparison of characteristics in different populations. Diabetes mellitus and birth defects. Microtia is a congenital anomaly of the ear that micotia in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Print Send to a friend Export reference Mendeley Statistics.