A child with EEC syndrome - a 10 years follow-up

• Authors: Agnieszka Machorowska-Pieniążek , Małgorzata Muc-Wierzgoń , Stefan Baron , Teresa Kokot , Edyta Fatyga
• Languages of publication: EN

Abstracts

EN

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is a rare congenital disease, occurring in 7 per 10,000 live newborns. It runs in families as an inherited autosomal dominant; it can also occur spontaneously as a point missense mutation in the DNA-binding domain of the p63 transcription factor (TP63) gene. Clinical diagnosis of a complete EEC syndrome involves a patient who presents with ectrodactyly, ectodermal dysplasia, and cleft lip and/or palate. This paper presents outcome of 10 years of interdisciplinary therapy for an EEC child with special consideration of the facial presentation of the disease. The management of cases of EEC syndrome requires multidisciplinary action because of the great variability in clinical expression. In an individual patient, treatment should be based on clinical findings and symptoms. Early interdisciplinary therapy will allow a patient with EEC syndrome to reinstate oral functions, satisfactory appearance, and social integration.

Keywords

EN

EEC syndrome; Interdiscyplinary therapy; 10 years follow-up

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2012
• Volume: 7
• Issue: 4
• Pages: 567-570

Dates

published

1 - 8 - 2012

online

24 - 5 - 2012

Contributors

author

Agnieszka Machorowska-Pieniążek

• Congenital Disease Outpatient Clinic of the Chair and Department of Orthodontics, Silesian Medical University, 41-800, Zabrze, Poland

author

Małgorzata Muc-Wierzgoń

• Faculty of Public Health, Silesian Medical University, 41-902, Bytom, Poland

author

Stefan Baron

• Congenital Disease Outpatient Clinic of the Chair and Department of Orthodontics, Silesian Medical University, 41-800, Zabrze, Poland

author

Teresa Kokot

• Faculty of Public Health, Silesian Medical University, 41-902, Bytom, Poland

author

Edyta Fatyga

• Faculty of Public Health, Silesian Medical University, 41-902, Bytom, Poland

References

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Identifiers

DOI

10.2478/s11536-012-0013-0