遗传疾病和遗传报告杂志

Cleidocranial Dysplasia in a Mother and her New-born Daughter

Ma?gorzata Napieralska, Aleksandra Modlinska, Tomasz Rybkiewicz, Regina ?uralska

Cleidocranial dysplasia is a rare disease with an autosomal dominant inheritance pattern. Abnormalities caused by mutations in the short arm of chromosome 6 affect the skeletal system, mainly the scull, teeth, and clavicles. Symptom variability, from isolated anomalies to full disease manifestation, occurs even among members of the same family. The present work describes a case of disease manifestation in a mother and a newborn, both burdened with cleidocranial dysplasia.