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Patterns of co-occurring birth defects in children with anotia and microtia
Jeremy M Schraw1, Renata H Benjamin2, Charles J Shumate3
1Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Insights
Infants with anotia or microtia often have other birth defects, suggesting potential undiagnosed syndromes. Identifying these patterns is crucial for early diagnosis and intervention in A/M cases.
Area of Science:
- Medical Genetics
- Pediatric Medicine
- Birth Defect Research
Background:
- Anotia or microtia (A/M) frequently co-occurs with other congenital anomalies.
- Syndromic diagnoses are often missed in the perinatal period for infants with A/M.
- Identifying patterns of co-occurring defects can reveal unrecognized syndromes.
Purpose of the Study:
- To investigate patterns of co-occurring birth defects in infants with non-syndromic anotia or microtia.
- To identify combinations of birth defects that occur more frequently than expected by chance.
- To explore potential links to undiagnosed or novel syndromes.
Main Methods:
- Utilized data from the Texas Birth Defects Registry (1999-2014).
- Analyzed 1310 infants with non-syndromic A/M, excluding those with diagnosed genetic/chromosomal syndromes.
- Calculated observed-to-expected ratios (OER) for co-occurring major defects diagnosed within the first year of life.
Main Results:
- 38% of infants with non-syndromic A/M had co-occurring major defects.
- Key combinations included hydrocephalus, ventricular septal defect, and spinal anomalies (OER 58.4).
- Other significant combinations involved microphthalmia with aortic anomalies (OER 55.4) and cleft lip/palate with rib/sternum anomalies (OER 32.8).
Conclusions:
- Observed co-occurrence patterns may indicate atypical presentations of known syndromes or novel syndromes.
- Comprehensive evaluation of infants with multiple birth defects, including A/M, is essential.
- This research supports the need for further investigation into genetic and chromosomal associations in A/M.
Abstract:
Many infants with anotia or microtia (A/M) have co-occurring birth defects, although few receive syndromic diagnoses in the perinatal period. Evaluation of co-occurring birth defects in children with A/M could identify patterns indicative of undiagnosed/unrecognized syndromes. We obtained information on co-occurring birth defects among infants with A/M for delivery years 1999-2014 from the Texas Birth Defects Registry. We calculated observed-to-expected ratios (OER) to identify birth defect combinations that occurred more often than expected by chance. We excluded children diagnosed with genetic or chromosomal syndromes from analyses. Birth defects and syndromes/associations diagnosed ≤1 year of age were considered. We identified 1310 infants with non-syndromic A/M, of whom 38% (N = 492) were diagnosed with co-occurring major defects. Top combinations included: hydrocephalus, ventricular septal defect, and spinal anomalies (OER 58.4); microphthalmia and anomalies of the aorta (OER 55.4); and cleft lip with or without cleft palate and rib or sternum anomalies (OER 32.8). Some combinations observed in our study may represent undiagnosed/atypical presentations of known A/M associations or syndromes, or novel syndromes yet to be described in the literature. Careful evaluation of infants with multiple birth defects including A/M is warranted to identify individuals with potential genetic or chromosomal syndromes.
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