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- Title
MORPHOLOGICAL STUDY OF FETUS WITH FRASER SYNDROME. A CASE REPORT.
- Authors
Munteanu, O.; Filipoiu, F.; Grosu, Luminiţa; Cretu, Miliana; Tulin, Raluca; Bulescu, I. A.; Bratila, Elvira; Cirstoiu, Monica; Secara, Diana
- 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.
- Subjects
FETAL diseases; FETAL abnormalities; SYNDACTYLY; KIDNEY diseases; LARYNGEAL stenosis
- Publication
Romanian Journal of Functional & Clinical, Macro & Microscopical Anatomy & of Anthropology / Revista Româna de Anatomie Functionala si Clinica, Macro si Microscopica si de Antropologie, 2015, Vol 14, Issue 2, p255
- ISSN
1583-4026
- Publication type
Case Study