University:
Boston University
Course:
SAR HP 151 | Introduction to Health Professions
Academic year:

2022
Views:

36

Pages:

19
Author:

Annabel Combs

Diabetes, Body Mass Index, Vitamin Supplementation and Anotia/Microtia Presented at Teratology Society Annual Meeting What do we know about the epidemiology of anotia/microtia? What do we know about the epidemiology of anotia/microtia? Not much! Anotia/Microtia The epidemiology of anotia and microtia. Harris, J, Kallen B, Robert E. J Med Genet 1996;33:809-13. Mastroiacovo P, Corchia C, Botto LD, Lanni R, Zampino G, Fusco D. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet 1995;32:453-7. Report from International Clearinghouse for Birth Defects Monitoring Systems. Congenital Malformations Worldwide. 1991. Elsevier. Anotia/Microtia What we do know: Prevalence is ~1-2 per 10,000 births Anotia/Microtia Highest in: Mexico 6.4 So. America 4.6 China 4.6 Calif – Hispanics 3.2 Calif – Asians 2.2 Ariz – Nat. Amer. 17.5 per 10,000 births Anotia/Microtia What we do know: More common in males Sex ratio: 1.6 ~ 63 male : 37 female Anotia/Microtia Known causes: Thalidomide Isotretinoin Genetic Risk factor: ? Diabetes Anotia/Microtia Laterality: 35% bilateral 65% unilateral Bilateral more likely to have associated malformations than unilateral Anotia/Microtia Associated malformations: 34-39% with associated major malformations, after excluding known chrom. anomalies Anotia/Microtia Associated malformations: Facial cleft Cardiac defect Goldenhar S. An/microphthalmia Limb reduction defect Renal anomaly Holoproscencephaly Anotia/Microtia Associated defects occurring together: Anotia/microtia + holoproscencephaly + an/microphthalmia Anotia/microtia + neural tube defect + facial cleft Holoproscencephaly – diabetes Neural tube defects – diabetes – body mass index – vitamin use Facial clefts – ?vitamin use Are – diabetes – body mass index – vitamin use associated with anotia/microtia risk? Hemifacial Microsomia Study Objective: To identify vasoactive and other risk factors for hemifacial microsomia (HFM) Hemifacial Microsomia Study • • • • • 1997-2002 Retrospective study Multicenter study – U.S. and Canada Cases from craniofacial centers Controls from case’s pediatrician’s office Hemifacial Microsomia Study • Cases diagnosed with – Hemifacial microsomia – Facial asymmetry – Unilateral anotia/microtia • < 3 years of age Hemifacial Microsomia (HFM) Study 268 cases 238 with HFM 122 without an/microtia 116 with an/microtia 39 with unilateral an/microtia 854 non-malformed controls { 155 anotia/ microtia cases