Microtia and meatal atresia in mother and son

Guízar-Vázquez, J; Arredondo-Vega, F.; Rostenberg, I; Manzano, C; Armendares, S

doi:10.1111/j.1399-0004.1978.tb02110.x

Cited by 20 publications

(6 citation statements)

References 3 publications

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“…Though previously both families with autosomal dominant [6,[25][26][27][28][29] and with autosomal recessive [30][31][32][33][34] kindreds were reported in other studies, obviously only a minority of cases with IMA might be caused by single genes of major effect. The results of our study were in agreement with the previous reports because only 4% of 354 cases with IMA showed familial cluster, i.e.…”

Section: Discussionmentioning

confidence: 99%

Possible multifactorial etiology of isolated microtia/anotia—A population-based study

Paput

Czeizel

Bánhidy

2012

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionmentioning

confidence: 99%

Possible multifactorial etiology of isolated microtia/anotia—A population-based study

Paput

Czeizel

Bánhidy

2012

International Journal of Pediatric Otorhinolaryngology

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“…Evidence for a significant genetic contribution to microtia is based on: (1) Higher concordance in monozygotic twins than in dizygotic twins; 38.5 and 4.5%, respectively [Artunduaga et al, 2009]; (2) reported familial cases with autosomal recessive or dominant modes of inheritance with variable expression and incomplete penetrance [Ellwood et al, 1968; Konigsmark et al, 1972; Balci, 1974; Guizar‐Vazquez et al, 1978; Zankl and Zang, 1979; Schmid et al, 1985; Strisciuglio et al, 1986; Orstavik et al, 1990; Gupta and Patton, 1995; Balci et al, 2001; Klockars et al, 2007; Alasti et al, 2008; Chafai Elalaoui et al, 2010]; (3) estimates of familial cases ranging from 3 to 34% [Castilla and Orioli, 1986; Mastroiacovo et al, 1995; Okajima et al, 1996; Llano‐Rivas et al, 1999]; (4) more than 18 different microtia‐associated syndromes for which single‐gene defects or chromosomal aberrations have been reported; and 5) mouse models demonstrating that mutations in specific genes result in microtia. We discuss below the most relevant existing data for candidate genes from studies on animal models and humans.…”

Section: Genetics Of Microtiamentioning

confidence: 99%

Microtia: Epidemiology and genetics

Luquetti¹,

Heike²,

Hing³

et al. 2011

American J of Med Genetics Pt A

352

326

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Microtia is a congenital anomaly of the ear that ranges 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. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The reported prevalence varies among regions, from 0.83 to 17.4 per 10,000 births and the prevalence is considered to be higher in Hispanics, Asians, Native Americans, and Andeans. The etiology of microtia and the cause of this wide variability in prevalence are poorly understood. Strong evidence supports the role of environmental and genetic causes for microtia. Although some studies have identified candidate genetic variants for microtia, no causal genetic mutation has been confirmed. The application of novel strategies in developmental biology and genetics has facilitated elucidation of mechanisms controlling craniofacial development. In this paper we review current knowledge of the epidemiology and genetics of microtia, including potential candidate genes supported by evidence from human syndromes and animal models. We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: neural crest cells disturbance, vascular disruption and altitude.

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“…There are multiple studies involving animal models suggesting that particular genetic pathways cause microtia (►Table 2). In an excellent review on the genetics of microtia, Luquetti et al 34 propose that a genetic cause for microtia is suggested by five observations: (1) higher concordance in monozygotic twins (38.5%) than in dizygotic twins (4.5%), 35 (2) estimates of familial cases ranging from 3 to 34%, 2,6,27,36 (3) reports of familial cases with autosomal recessive or dominant modes of inheritance with variable expression and incomplete penetrance, [37][38][39][40][41][42][43][44][45][46][47][48][49] (4) more than 18 distinct microtia-associated syndromes for which single-gene defects or chromosomal aberrations have been reported, and (5) mouse models demonstrating that mutations in specific genes HOXA2, SIX and eyes absent (EYA), TBX1, IRF6, and CHUK result in microtia.…”

Section: Genetic Factorsmentioning

confidence: 99%

Genetic Advances in the Understanding of Microtia

2016

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Microtia is a genetic condition affecting the external ears and presents clinically along a wide spectrum: minimally affected ears are small with minor shape abnormalities; extremely affected ears lack all identifiable structures, with the most extreme being absence of the entire external ear. Multiple genetic causes have been linked to microtia in both animal models and humans, which are improving our understanding of the condition and may lead to the identification of a unified cause for the condition. Microtia is also a prominent feature of several genetic syndromes, the study of which has provided further insight into the possible causes and genetic mechanisms of the condition. This article reviews our current understanding of microtia including epidemiological characteristics, classification systems, environmental and genetic causative factors leading to microtia. Despite our increased understanding of the genetics of microtia, we do not have a means of preventing the condition and still rely on complex staged, surgical correction.

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Microtia and meatal atresia in mother and son

Abstract: The present paper describes a family in which a mother and son are affected with microtia and meatal atresia. The pedigree suggests autosomal dominant inheritance.

Cited by 20 publications

References 3 publications

Possible multifactorial etiology of isolated microtia/anotia—A population-based study

Possible multifactorial etiology of isolated microtia/anotia—A population-based study

Microtia: Epidemiology and genetics

Genetic Advances in the Understanding of Microtia

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