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

作者：Machorowska Pieniazek Agnieszka; Muc Wierzgon Malgorzata^*; Baron Stefan; Kokot Teresa; Fatyga Edyta

来源：Central European Journal of Medicine, 2012, 7(4): 567-570.

DOI：10.2478/s11536-012-0013-0

• EEC syndrome
• Interdiscyplinary therapy
• 10 years follow-up

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.

• 出版日期2012-8