RESUMO
Chondrodysplasia punctata (CDP) is an etiologically heterogeneous disorder characterized by the radiographic finding of stippled epiphyses (punctate calcifications). It is often accompanied by a characteristic facial appearance, known as the Binder phenotype, which is attributed to hypoplasia of the nasal cartilages; abnormal distal phalanges (brachytelephalangy) are a common component manifestation as well. We report eight patients with a Binder phenotype with or without CDP who all shared a known or suspected maternal deficiency of vitamin K. We suspect that this phenotype is probably under recognized, and we hope to increase awareness about the maternal risk factors, especially hyperemesis gravidarum, which lead to nutritional deficiency.
Assuntos
Condrodisplasia Punctata/diagnóstico , Doenças Fetais/diagnóstico , Hiperêmese Gravídica/complicações , Deficiência de Vitamina K/complicações , Adolescente , Adulto , Criança , Pré-Escolar , Condrodisplasia Punctata/etiologia , Doença de Crohn/complicações , Feminino , Doenças Fetais/etiologia , Humanos , Lactente , Masculino , GravidezRESUMO
Identifying hereditary cancer risk saves lives through individualized surveillance and prevention efforts. Advances in testing technologies and genetic knowledge are providing us with new tools for identifying individuals and families who are at highest risk for cancer. This article reviews our current genetic testing abilities, describes the role of genetic counselors, and offers guidance and resources for physicians as they determine who ought to be referred for genetic cancer risk assessment and testing.
