Abstract
Cryptophthalmos syndrome or Fraser syndrome is a rare autosomal recessive disorder, characterized by major features such as cryptophthalmos, cutaneous syndactyly, malformation of the larynx, abnormal genitalia, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. It is inherited in an autosomal recessive pattern where both the parents must be possessing one defective allele for Fraser syndrome. Since both the parents are carriers for the Fraser syndrome, there is a chance for 25% of their children being affected, 50% of their children to be carriers and 25% of their children to be normal. A 22 year old pregnant woman with a family history of third degree consanguineous marriage was diagnosed to have a fetus with many of the above findings in her anomaly scan which was done to manage child birth and as it is crucial to get prenatal diagnosis early in the pregnancy. Parents decided to terminate the pregnancy. Soon after the abortus was expelled, cord blood was collected and subjected to Karyotype test. Karyotype analysis revealed the absence of a short sequence on chromosome number 4 in q arm at 4q21 region, which may be responsible for the above mentioned deformities. Due to the high morbidity and mortality associated with Fraser syndrome, early detection by amniotic fluid karyotyping may be helpful in early intervention.
Highlights
Fraser syndrome is an autosomal recessive congenital disorder [1]
The initial tale of Fraser Syndrome is attributed to Zehender and coworkers in 1872, when it was known as ‘cryptophthalmos syndrome’, as reported by Khoury et al [2]
Fraser syndrome is named after the geneticist, George R
Summary
Fraser syndrome is an autosomal recessive congenital disorder [1]. The reported incidence of Fraser Syndrome is 0.043 per 10,000 neonates and 1.1 in 10,000 stillbirths, worldwide [7]. The reported incidence of Fraser Syndrome is 0.043 per 10,000 live born infants and 1.1 in 10,000 stillbirths, worldwide [7]. The FRAS1 gene is pin pointed on the long arm of chromosome 4 (at 4q21 region). This disorder has been coupled among FREM2 gene that originate in chromosome 13 [10] and with mutations in GRIP1 gene of chromosome 12 [11]. It is possible to establish this disorder due to abnormal prenatal ultrasonographic features such as, polyhydramnios or oligohydramnios, echogenic lungs and renal abnormalities/agenesis [1]
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