Open AccessCROUZON SYNDROME – CLINICAL-EVOLUTIVE PARTICULARITIES. CASE REPORT
Author(s) -
Aniko Manea,
Nicoleta Kiritescu,
Mihaela Dobre,
Mariana Boia
Publication year - 2016
Publication title -
romanian journal of pediatrics
Language(s) - English
Resource type - Journals
eISSN - 2069-6175
pISSN - 1454-0398
DOI - 10.37897/rjp.2016.1.12
Subject(s) - craniosynostosis , medicine , facial dysmorphism , neonatology , pediatrics , crouzon syndrome , genetic disorder , sister , incidence (geometry) , congenital disorder , disease , surgery , pathology , genetics , pregnancy , physics , sociology , biology , anthropology , optics , gene , phenotype
The Crouzon’s Syndrome is a rare genetic disorder, with an incidence between 1/25,000 to 1/100,000 newborn babies, transmitted autosomal dominant, characterized by facial dysmorphism and craniosynostosis, based on those characteristic can be diagnosed early. We present the case of a premature newborn female admitted to the Hospital Division of Neonatology “Louis Ţurcanu” with facial dysmorphism. The anamnestic investigation revealed that the patient’s mother and sister suffer from the same type of affection. The patients affected by Crouzon Syndrome have a normal lifespan, and 97% of them have a normal intelligence. The quality of their life is affected by aesthetic considerations and the severity of abnormalities they present.