RESUMO
We report a patient who has congenital cutis laxa and exocrine pancreatic insufficiency. Collagen analysis has provided evidence for defective elastin cross linking, possibly related to a mild copper deficiency. Connective tissue anomalies, in the presence of poor growth and/or symptoms of malabsorption should alert the physician to investigate pancreatic function. Adequate replacement of pancreatic enzymes will result in normal growth and development.
Assuntos
Cútis Laxa/congênito , Insuficiência Pancreática Exócrina/complicações , Adolescente , Doenças do Colágeno/complicações , Cobre/deficiência , Cútis Laxa/complicações , Elastina , Humanos , MasculinoRESUMO
A female child, born at term to a mother who contracted varicella in early pregnancy, presented with multiple congenital defects. These included mental retardation, numerous skeletal anomalies, and absent uterus and vagina. Urologic anomalies included bilateral chronic pyelonephritis secondary to vesicoureteric reflux. This pattern of congenital abnormalities has not been reported previously.