Santana HEE

Language: Spanish
References: 0
Page: 123-128
PDF size: 973.97 Kb.

ABSTRACT

Freeman-Sheldon syndrome is a non-frequent congenital disorder, it is characterized by a dimorphic state which combines bone abnormalities, joint contractures and typical facial features. The presentation of this case has the objective to present the importance of the early diagnosis of this syndrome in the first case reported in Holguín province, female infant who since she was born presents contracted mouth, with macrostomy that looks like a ¨whistling mouth¨; chin in form of an H, accompanied by bilateral Varo equine feet. For these phenotypic characteristics a clinical diagnosis was performed immediately and she is referred to the maxillofacial specialist. It can be concluded that the early diagnosis is very important in these cases as well as the multidisciplinary follow-up, to prevent complications and the achievement of the adequate feeding, aspects that permit to improve the life quality and carry out a right medical advice to the families.