BACKGROUND: Epidemiologic studies involving @entity600 are extremely sensitive to phenotype accuracy and precision. We devised a case review and classification protocol for a project to study school achievement in @entity1 with idiopathic, nonsyndromic orofacial clefts to improve the reliability of phenotypic classification from the statewide @entity600 registry. METHODS: Surveillance-program abstraction data and medical records at the birth or treating hospitals were used when available. Exclusion criteria included: median @entity3384 ; Tessier cleft; premaxillary agenesis; presence of a recognizable syndrome, phenotype, association, or sequence (other than Robin sequence); clefts with other @entity600 not considered to be normal or common variants in the newborn; and cases with documented or suspected genetic or teratogenic causes. RESULTS: Of 712 @entity1 identified with orofacial clefts, 153 were excluded, leaving 559 nonsyndromic @entity13797 cases of unknown cause in the final study. These cases were grouped into the following clinically meaningful types: @entity3384 with or without @entity2419 ; @entity3384 and @entity2419 ; and @entity2419 only. This review and classification process resulted in the elimination of 21.5% of the original cohort of identified cases, with most exclusions being due to suspected syndromic associations. CONCLUSION: Verbatim descriptions of the clinical findings are critical for accurate classification of diagnoses. This review process improved the precision of @entity13797 phenotype classification for our study. Precision would have been further improved if all of the cases had verbatim descriptions of diagnoses and all medical records could have been reviewed by the classification team.

Issues involved in the phenotypic classification of orofacial clefts ascertained through a state XXXX registry for the North Carolina Cleft Outcomes Study.

@entity1 :: ('9606', 'Species') :: ['children'] @entity13797 :: ('MESH:C566121', 'Disease') :: ['orofacial cleft'] @entity600 :: ('MESH:D000014', 'Disease') :: ['malformations', 'birth defects'] @entity2419 :: ('MESH:D002972', 'Disease') :: ['cleft palate', 'cleft alveolus'] @entity3384 :: ('MESH:D002971', 'Disease') :: ['cleft lip']
@entity600 :: (MESH:D000014,Disease) :: ['birth defects']
