Cleft lip and palate as predictors of EEC syndrome: a clinical case

Abstract

Cleft lip and palate is one of the most common congenital pathologies of the face and ranks 3rd in the structure of all congenital malformations. An isolated form of this pathology occurs in 7,6-41,4% of cases; as part of symptomatic complexes of a cleft lip and palate, 21,1-61,2% are described. Cleft lip and palate may be predictors of EEC syndrome. EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft lip and palate) is a rare, autosomal dominant disorder with high penetrance. During the neonatal period, diagnosis can be difficult, since a number of signs (lack of hair, teeth) are the age norm. The detection of a cleft lip and palate in combination with pathology of the distal extremities, especially at the stage of prenatal diagnosis, can provide significant assistance in the early diagnosis of EEC syndrome. Most often, this defect can be established at a period of 16-30 weeks. Despite this, the diagnosis of EEC syndrome is rarely made, the condition is more often described as «multiple malformations». The article presents clinical cases of the diagnosis of EEC syndrome in 2 children from the same family, describes the phenotypic characteristics of patients. It is emphasized that in the presence of multiple malformations of the cleft lip and palate in combination with the pathology of the distal extremities can be predictors of the EEC syndrome. The authors point out the great importance of early diagnosis of EEC syndrome in drawing up a correct treatment plan based on the pathogenesis of the disease. Treatment of individual clinical manifestations included in the EEC syndrome (cleft lip and palate, dermatitis, adentia, xerostomia, atresia of the lacrimal ducts), without combining them into a single nosological form, can be long, expensive and unsuccessful. The detection of pathology in parents who are carriers of the EEC syndrome allows predicting the birth of children with this syndrome. The method of choice is the use of assisted reproductive technologies.

Keywords

• eec syndrome
• cleft lip and palate
• predictors
• prenatal diagnosis
• treatment
• reproductive technologies