Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Case Report, J Genet Disor Genet Rep Vol: 5 Issue: 2

Cleidocranial Dysplasia in a Mother and her New-born Daughter

Małgorzata Napieralska1, Aleksandra Modlinska2*, Tomasz Rybkiewicz1 and Regina Żuralska3
1Neonatal Intensive-Care Unit, Biegański Regional Specialist Hospital in Grudziadz, Dr Ludwik Rydygier street 15, postal code: 86-300 Grudziądz, Poland
2Department of Palliative Medicine, Medical University of Gdańsk, Dębinki Street 2, postal code: 80-208 Gdańsk, 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 Gdańsk, M. Skłodowskiej-Curie 3a street, postal code: 80-210 Gdańsk, Poland
Corresponding author : Dr. Aleksandra Modlinska
Department of Palliative Medicine, Medical University of Gdańsk, Poland, Debinki 2, 80-211 Gdańsk, Poland
Tel: +48 583491573
E-mail: [email protected]
Received: February 19, 2016 Accepted: May 28, 2016 Published: June 03, 2016
Citation: Napieralska M, Modlinska A, Rybkiewicz T, Żuralska 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.

Keywords: Cleidocranial dysplasia; Neonatal care; Hereditary disease

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