Dominant syndrome with isolated cryptophthalmos and ocular anomalies

Abstract

We report on a mother and daughter with nonsyndromal cryptophthalmos. Both patients have additional ocular anomalies, including microphthalmia, retinal dysplasia, and Peters anomaly. The periocular and lid changes seen in these individuals are distinct from those seen in typical cryptophthalmos. The apparent dominant mode of inheritance in this family distinguishes this condition from autosomal recessive isolated cryptophthalmos and from the Fraser or cryptophthalmos syndrome.

Bilateral abortive cryptophthalmos associated with oculocutaneous albinism

“…Cryptophthalmos (hidden eye) is the congenital absence of the eyelid with skin passing continuously from the forehead onto the cheek over a malformed eye (Saal et al 1992). It was first described in 1872 by Zehender and Manz (Zehender 1872;Manz 1872) in a 4-month-old child with bilateral cryptophthalmos, abnormal wedge of scalp hair extending from temple to brow, broad depressed nasal bridge, syndactyly, umbilical hernia, abnormal genitalia, anal stenosis and congenital diastasis of the symphysis pubis.…”

“…It was first described in 1872 by Zehender and Manz (Zehender 1872;Manz 1872) in a 4-month-old child with bilateral cryptophthalmos, abnormal wedge of scalp hair extending from temple to brow, broad depressed nasal bridge, syndactyly, umbilical hernia, abnormal genitalia, anal stenosis and congenital diastasis of the symphysis pubis. Subsequently, it has been reported as an isolated malformation which could be sporadic or familial with autosomal dominant mode of inheritance, as well as a part of an autosomal recessive multiple congenital anomaly syndrome referred to as the 'Cryptophthalmos Syndrome' or 'Fraser Syndrome' (Saal et al 1992;Thomas et al 1986;Gattuso et al 1987;Mina et al 1988;Fraser 1962;Brazier et al 1986). Some authors have stated that cryptophthalmos was not an essential feature for diagnosis, and the eponym 'Fraser Syndrome' was preferred (Koening & Spranger 1986; Meinecke 1986).…”

Eyelids, Eyelashes, and Eyebrows

“…A fourth type of cryptophthalmos (autosomal dominant variant) presents with fully formed eyelids complete with accessory structures, but the lid is displaced inferiorly close to the inferior orbital rim (Saal et al 1992;Stevenson and Hall 2006). The conjunctival sac is underdeveloped and the globe is not visible (Saal et al 1992).…”

Elements of morphology: Standard terminology for the periorbital region

“…Comments: This term is based on Saal et al [1992]. This is an acknowledged bundled term, though the separate coding of the components (palpebral fissure absence; presence of eyelashes) was deemed impractical.…”