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Hindi Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Tomasz Rybkiewicz Author
Subjects of specialization
Affiliation
Hereditary disease
Neonatal Intensive-Care Unit, Biega?ski Regional Specialist Hospital in Grudziadz, Dr Ludwik Rydygier street 15, postal code: 86-300 Grudzi?dz, Poland
Biography
Mr. Tomasz Rybkiewicz, belongs to the department of Palliative Medicine, interest in the field of Cleidocranial dysplasia; Neonatal care; Hereditary disease, from Medical University of Gda?sk, D?binki Street 2, postal code: 80-208 Gda?sk, Poland
Publications
Case Report Subscription
Cleidocranial Dysplasia in a Mother and her New-born Daughter
Author(s): 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.
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