Frazer syndrome: case report from Yaoundé University Hospital

Abstract

Fraser syndrome is an autosomal recessive genetic disorder. It is a rare disease also known as ‘cryptophthalmos syndrome’. It is characterized by a group of congenital malformations such as crytophthalmos, syndactyly, genital anomalies and ENT malformations. Although cryptophthalmos is considered a main feature of Fraser syndrome, its absence does not exclude the diagnosis. Several other so-called minor signs may accompany these principal signs, such as ear anomalies, nasal anomalies, anomalies of the larynx and/or palate, skeletal anomalies, umbilical hernia, renal agenesis and mental retardation. Clinically, the diagnosis can be made according to the Thomas criteria described in 1986. We report the case of a newborn received from the
delivery room with respiratory distress in the context of an obvious malformative syndrome. The authors discuss the various clinical and paraclinical malformative aspects of Fraser syndrome. They raise the issue of multidisciplinary management and the importance of antenatal diagnosis during prenatal consultations in our context. In view of the clinical picture of malformations, Fraser syndrome should be diagnosed antenatally. Few pregnancies in our context are properly monitored. These cases pose a number of challenges for multidisciplinary management in an environment with limited resources.