Case Report, J Genet Disor Genet Rep Vol: 5 Issue: 2
Cleidocranial Dysplasia in a Mother and her New-born Daughter
| Ma�?�?gorzata Napieralska1, Aleksandra Modlinska2*, Tomasz Rybkiewicz1 and Regina �?»uralska3 | |
| 1Neonatal Intensive-Care Unit, Biega�?�?ski Regional Specialist Hospital in Grudziadz, Dr Ludwik Rydygier street 15, postal code: 86-300 Grudzi�?�?dz, Poland | |
| 2Department of Palliative Medicine, Medical University of Gda�?�?sk, D�?�?binki Street 2, postal code: 80-208 Gda�?�?sk, Poland | |
| 3Department of Community Nursing and Health Promotion, Faculty of Health Sciences with Sub faculty of Nursing and Institute of Maritime and Tropical Medicine. Medical University of Gda�?�?sk, M. Sk�?�?odowskiej-Curie 3a street, postal code: 80-210 Gda�?�?sk, Poland | |
| Corresponding author : Dr. Aleksandra Modlinska Department of Palliative Medicine, Medical University of Gda�?�?sk, Poland, Debinki 2, 80-211 Gda�?�?sk, Poland Tel: +48 583491573 E-mail: aleksandra.modlinska@gumed.edu.pl |
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| Received: February 19, 2016 Accepted: May 28, 2016 Published: June 03, 2016 | |
| Citation: Napieralska M, Modlinska A, Rybkiewicz T, �?»uralska R (2016) Cleidocranial Dysplasia in a Mother and her New-born Daughter. J Genet Disor Genet Rep 5:2. doi:10.4172/2327-5790.1000136 |
Abstract
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.
