Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn

Abstract

Clinical and autopsy Findings in two fetuses and one newborn infant with Fraser syndrome are presented. Discussion focuses on the range of phenotypic expression within this autosomal‐recessive disorder, the resulting difficulties in prenatal and postnatal diagnosis, and on the concept of a neurocristopathy as underlying disturbance.

Isolated Bilateral Complete Cryptophthalmos

“…(Figure 3a) B Scan confirmed absence of the crystalline lens. (Figure 3b) Discussion The association between cryptophthalmos and multiple congenital anomalies has been well described over the last century, with Thomas describing the diagnostic criteria for Fraser Syndrome (Stevens et al 1994, Ramsing et al 1990, Schauer et al 1990, Berg et al 2001. The pathogenesis of this condition is unknown, with some studies documenting similarities with animal models showing Vitamin A deficiencies and defects in programmed cell death (Thomas et al 1986).…”

“…CO is classified into three types: complete, incomplete and abortive (Kanhere et al 1999). Both autosomal recessive and autosomal dominant inheritance have been described, but most cases are autosomal recessive, with consanguinity being reported in 15% to 24.8% cases (Stevens et al 1994, Ramsing et al 1990, Schauer et al 1990, Berg et al 2001, Slavotinek et al 2002. CO is usually accompanied by urogenital anomalies, syndactyly, and cognitive disorders, and is termed as Fraser Syndrome (Stevens et al 1994, Ramsing et al 1990, Schauer et al 1990, Berg et al 2001, Slavotinek et al 2002.…”

Fraser Syndrome – A Case Report

“…In our case, there was cryptophthalmos, syndactyly and abnormal genitalia as major criteria and malformation of the nose as minor criteria. Cryptophthalmos is a leading feature of FS and has been described in 84% to 93% of the patients 3,4 .…”

“…Syndactyly has been considered as a major feature of FS that occurs in 77% of the patients. Syndactyly is always cutaneous and in most cases involves fingers and toes 3,4 . Genital anomalies are cryptorchidism, micropenis, phimosis, chordee, hypospadius and scrotal hypoplasia in male 3,4 .…”

“…The most consistent features are cryptophthalmos, syndactyly of finger and toes, abnormal genitalia 1 . The first report of Fraser syndrome is attributed to Zehender and coworker 2,3,4 . In 1962 Fraser described the recurring constellation of cases of Cryptophthalmos with other congenital anomalies 5 .…”