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Published on: September 19, 2015
Structural birth defects associated with oral clefts in Hawaii, 1986 to 2001
Mathias B Forrester1, Ruth D Merz
1Hawaii Birth Defects Program, Honolulu, Hawaii 96817-5157, USA.
Insights
This study identified specific birth defects associated with oral clefts. Encephalocele, microcephaly, and syndactyly were linked to cleft palate, while limb and eye defects were associated with cleft lip.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Surgery
Background:
- Oral clefts, including cleft palate and cleft lip, are common congenital anomalies.
- Understanding associated structural birth defects is crucial for comprehensive patient care and genetic counseling.
Purpose of the Study:
- To investigate the co-occurrence of specific structural birth defects with various types of oral clefts.
- To determine if certain birth defects are disproportionately represented in infants with oral clefts.
Main Methods:
- Analysis of data from a birth defects registry (1986-2001).
- Comparison of rates for 47 structural birth defects in oral cleft cases versus non-oral cleft major birth defect cases.
- Stratification of analysis by cleft palate only and cleft lip with or without cleft palate.
Main Results:
- Cleft palate only cases showed significantly higher rates of encephalocele, microcephaly, and syndactyly.
- Cleft lip with or without cleft palate cases had higher rates of anophthalmia/microphthalmia, single ventricle, and limb reduction deformities.
- 81% of defects exhibited similar association patterns across both oral cleft categories.
Conclusions:
- Specific structural birth defects are more common in infants with oral clefts than expected by chance.
- The patterns of association for most defects were consistent between cleft palate alone and cleft lip with or without cleft palate.
Objective:
To identify structural birth defects that occur in association with oral clefts.
Methods:
Data were obtained from a birth defects registry and included all infants and fetuses with cleft palate without cleft lip or cleft lip with or without cleft palate delivered from 1986 to 2001. For 47 specific structural birth defects, rates among oral cleft cases were compared with the rates among all infants and fetuses with major birth defects, excluding those with oral clefts.
Results:
Among cleft palate only cases, the rates were significantly higher than expected for encephalocele, microcephaly, and syndactyly. Among cases of cleft lip with or without cleft palate, the rates were significantly higher than expected for anophthalmia/microphthalmia, single ventricle, reduction deformity of upper limbs, and reduction deformity of lower limbs. When cases of cleft palate only and cleft lip with or without cleft palate were compared as to the rates for particular birth defects, the rates of the defects were either higher or lower than expected in both oral cleft categories for 38 (81%) of the defects.
Conclusions:
Certain birth defects were more frequently associated with oral clefts than might be expected. For the majority of defects, their patterns of association were similar between cleft palate without cleft lip and cleft lip with or without cleft palate.
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