CASE CONTROL STUDY OF HEMIFACIAL MICROSOMIA AND DRUG USE

Boston University Medical Campus, Boston MA

Investigators

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Abstract

DESCRIPTION: (Adapted from Investigator's Abstract) Hemifacial microsomia (HFM), the second most common craniofacial malformation, has significant functional and cosmetic consequences. While experimental evidence suggests a vascular etiology, there have been no published epidemiologic studies of risk factors for HFM, and its causes remain largely unknown. The proposed project is a multicenter case-control study of HFM in relation to 1) maternal exposure to decongestants, 2) maternal exposure to other vasoactive agents (such as alcohol, coffee, cigarette smoking, aspirin, and ibuprofen), 3) maternal exposure to other environmental risk factors (such as other medications, illness and nutritional factors); and 4) eventual studies of possible gene/environment interactions. There will be 250 case infants with HFM and 750 control infants without congenital malformations or medical conditions requiring hospitalization. Cases will be identified within 12 months of age at tertiary care institutions in 15 metropolitan areas in the U.S. and Canada. Controls will be identified by the case infant's primary physician and will comprise the next three infants born after the case. Mothers of cases and controls will be interviewed within three months after the date of case ascertainment by telephone. The standardized questionnaire inquires in detail about demographic factors; reproductive, medical and pregnancy illness histories; medication use; behaviors; and nutrition. Before the interview, each mother will be sent a medication identification booklet which includes color pictures of OTC products to help with recall. A separate component of the study will be collection of buccal cell samples from the study infant and his/her mother and father. Standardized photographs will be taken and the medical record of each case infant will be reviewed for HFM classification. Exposure prevalences will be compared between mothers of cases and controls and relative risks will be estimated, while controlling for potential confounding factors.