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Journal
2012 | 7 | 4 | 567-570
Article title

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

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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.
Publisher
Journal
Year
Volume
7
Issue
4
Pages
567-570
Physical description
Dates
published
1 - 8 - 2012
online
24 - 5 - 2012
References
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Document Type
Publication order reference
YADDA identifier
bwmeta1.element.-psjd-doi-10_2478_s11536-012-0013-0
Identifiers
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