Microtia and associated anomalies: Statistical analysis

Kaye, Celia I.; Rollnick, Beverly R.; Hauck, Walter W.; Martın, Alice O.; Richtsmeier, Joan T.; Nagatoshi, Konrad

doi:10.1002/ajmg.1320340424

Cited by 62 publications

(30 citation statements)

References 11 publications

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“…Anotia constitutes a total absence of the external auricle (Carey et al, 2006). Anotia/microtia can be isolated-without an associated defect or identifiable syndrome pattern present (25-45%) (Shaw et al, 2004;Canfield et al, 2009a)-or associated with other birth defects (20-60%) (Kaye et al, 1989;Mastroiacovo et al, 1995;Shaw et al, 2004), most commonly with facial clefts and cardiac defects (Harris et al, 1996). Additionally, across population registry studies, the majority of microtia cases are unilateral (79-93%) (Castilla and Orioli, 1986;Mastroiacovo et al, 1995;Shaw et al, 2004), with the right ear more commonly affected (Klockars and Rautio, 2009).…”

Section: Introductionmentioning

confidence: 99%

Sociodemographic and hispanic acculturation factors and isolated anotia/microtia

Hoyt

Canfield

Shaw

et al. 2014

Birth Defects Research

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BACKGROUND It has been observed in several studies that infants with anotia/microtia are more common among Hispanics compared with other racial/ethnic groups. We examined the association between selected Hispanic ethnicity and acculturation factors and anotia/microtia in the National Birth Defects Prevention Study (NBDPS). METHODS We examined data from mothers of 351 infants with isolated anotia/microtia and 8,435 unaffected infants from the NBDPS with an expected delivery date from 1997 to 2007. Sociodemographic, maternal, and acculturation factors (e.g. age, maternal education, household income, BMI, gestational diabetes, folic acid, smoking, alcohol intake, study center, parental birthplace and years lived in the United States, maternal language) were assessed as overall risk factors and also as risk factors among subgroups of Hispanics (US- and foreign-born) versus non-Hispanic (NH) whites. RESULTS Compared to NH whites, both US- and foreign-born Hispanic mothers demonstrated substantially higher odds of delivering infants with anotia/microtia across nearly all strata of sociodemographic and other maternal factors (adjusted odds ratios (aORs) range: 2.3–8.3). The odds of anotia/microtia was particularly elevated among Hispanic mothers who emigrated from Mexico after age five (aOR=5.67, 95% CI=3.53–9.11) or who conducted the interview in Spanish (aOR=5.72, 95% CI=3.55–9.20). CONCLUSIONS We observed that certain sociodemographic and acculturation factors are associated with higher risks of anotia/microtia among offspring of Hispanic mothers.

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Section: Introductionmentioning

confidence: 99%

Sociodemographic and hispanic acculturation factors and isolated anotia/microtia

Hoyt

Canfield

Shaw

et al. 2014

Birth Defects Research

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“…Its most severe type anotia is the total absence of the auricle most often with narrowing or absence of the external auditory meatus and can occur unilaterally or bilaterally. Birth prevalence is approximately 1 out of 10,000 births [Kaye et al, 1989]. Microtia occurs when the development of the ear in the embryo is disturbed beginning from the 3rd to the 12th week of gestation.…”

Section: Introductionmentioning

confidence: 99%

Association of microtia with maternal obesity and periconceptional folic acid use

Carmichael

Scheuerle

et al. 2010

American J of Med Genetics Pt A

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The study objective was to examine the association of microtia with maternal intake of folic-acid-containing supplements and obesity. The study data included deliveries from 1997 to 2005 from the National Birth Defects Prevention Study. Non-syndromic cases of microtia were compared to non-malformed, population-based liveborn control infants, by estimating adjusted odds ratios (AORs) and 95% confidence intervals (CIs) from logistic regression models that included maternal race/ethnicity, education, and study site. Maternal obesity was only weakly associated with microtia. Maternal periconceptional intake of folic-acid-containing vitamin supplements reduced the risk for microtia, but only among non-obese women (OR: 0.63; 95% CI: 0.44-0.91). The reduced risk was stronger when analyses were restricted to isolated cases (OR: 0.51; 95% CI: 0.34-0.77), and it was independent of the level of maternal dietary folate intake. Adjusting for maternal race/ethnicity did not reveal alternative interpretations of this association. This analysis suggests that maternal periconceptional intake of folic-acid-containing supplements may provide protection from microtia for non-obese women.

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“…A variant of this is the oculoauriculovertebral complex (Goldenhar “syndrome”), which comprises vertebral abnormalities, epibulbar dermoids, and other anomalies [Bassila and Goldberg, 1989]. Hemifacial microsomia and the Goldenhar phenotype probably are variants of the same condition, but they differ in complexity and severity [Cousley and Wilson, 1992; Kaye et al, 1989]. The causes and pathogenesis of this entity are not well known but are likely heterogeneous.…”

Section: Introductionmentioning

confidence: 99%

Oculoauriculovertebral abnormalities in children of diabetic mothers

Toland¹,

Yankowitz²,

Winder³

et al. 2000

Am. J. Med. Genet.

116

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Maternal diabetes is known to have teratogenic effects. Malformations including neural tube defects, caudal dysgenesis, vertebral defects, congenital heart defects, femoral hypoplasia, and renal anomalies are described in infants of diabetic mothers. However, craniofacial anomalies have rarely been reported in such infants. Here we document craniofacial anomalies of patients born to diabetic mothers. We describe two patient populations: individuals evaluated through our genetics services for multiple malformations and individuals identified through a database search in our craniofacial clinic. The first group consists of 14 individuals evaluated in our genetics clinics who were born to diabetic mothers and had craniofacial anomalies. The second group consists of seven individuals who were identified from a craniofacial database search of patients with hemifacial microsomia and who were born to diabetic mothers. Thus, both groups were born to diabetic mothers and had hemifacial microsomia (67%), microtia (52%), hearing loss (43%), epibulbar dermoids (24%), and fused cervical vertebrae (24%). Therefore, the teratogenic effects of maternal diabetes probably include such craniofacial malformations as the oculoauriculovertebral/Goldenhar complex. Infants of diabetic mothers should be evaluated for craniofacial anomalies. Conversely, mothers of infants with craniofacial anomalies should be evaluated for diabetes to aid in counseling concerning cause and recurrence risks.

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Microtia and associated anomalies: Statistical analysis

Cited by 62 publications

References 11 publications

Sociodemographic and hispanic acculturation factors and isolated anotia/microtia

Sociodemographic and hispanic acculturation factors and isolated anotia/microtia

Association of microtia with maternal obesity and periconceptional folic acid use

Oculoauriculovertebral abnormalities in children of diabetic mothers

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