Abstract
An: 2015, Nr.2, Articol Nr. 24
Title:
MORPHOLOGICAL STUDY OF FETUS WITH FRASER SYNDROME. A CASE REPORT
Authors:
O. Munteanu - University of Medicine and Pharmacy “Carol Davila”, Bucharest, Department of Morphology; University Emergency Hospital Bucharest, Bucharest, Department of Obstetrics and Gynecology
F. Filipoiu, Raluca Tulin, I.A. Bulescu - University of Medicine and Pharmacy “Carol Davila”, Bucharest, Department of Morphology
Luminiţa Grosu, Miliana Cretu - “Carol Davila” University of Medicine and Pharmacy, Bucharest, Student
Elvira Bratila - “Sfantul Pantelimon” Emergency Hospital, Bucharest, Department of Obstetrics and Gynecology
Monica Cirstoiu, Diana Secara - University Emergency Hospital Bucharest, Bucharest, Department of Obstetrics and Gynecology
MORPHOLOGICAL STUDY OF FETUS WITH FRASER SYNDROME. A CASE REPORT (Abstract): Introduction: Fraser syndrome is a rare genetic multisystem malformation with an autosomal recessive pattern of inheritance that in most cases comprises 3 major defects: cryptophthalmos, syndactyly and renal anomalies. Case report: We report the case of a female fetus with a length of 39 cm and a weight of 1250 g with multiple abnormalities. The abnormal facial features were: bilateral cryptophtalmos, triangular face, low-set ears, broad nose with depressed or flat nasal bridge. The limbs are also malformed, presenting cutaneous syndactyly. We also detected laryngeal stenosis, clitoromegaly, imperforate anus and bilateral renal agenesis. Due to the fact that the specimen met the criteria necessary the diagnosis of Fraser syndrome was established. Conclusion: The case reported is a typical manifestation of Fraser syndrome, a rare plurimalformative disease. The diagnosis was established after an extensive morphological examination that revealed the most frequent anomalies associated with this condition.
Key words: FRASER SYNDROME, CRYPTOPHTALMOS, MORPHOLOGICAL EXAMINATION