Bilateral Cryptophthalmos Syndactyly Syndrome: Report of a New Case

A three-day-old Iranian female neonate being the product of an uncomplicated pregnancy was admitted to the ophthalmology office with severe abnormality of the left and right eyes. Family history, drug history and maternal diseases during pregnancy were negative and there was no history of consanguinity. Breastfeeding was normal and there was no problem of feeding and breathing. There were complete absence of both eyebrows and complete absence of lids in the left eye as well as an incomplete lid defect in the right eye. Slit lamp examination of the right eye showed remnants of incomplete upper lid margin with some eyelashes attached to the upper half of cornea. Part of anterior chamber and iris were visible from lower half of the right cornea. Pupil was not observable. Right lower lid had two layers with its inner layer attached to the lower part of cornea. Except for the pulling of the left nostril and nose toward the left cheek, other parts including the lips, mouth, tongue, palate and pharynx seemed normal. Also, she had partial syndactyly of the right hand and left foot. By parents’ statement, genitourinary tract and bowel tract had no abnormality. The diagnosis was cryptophthalmos-syndactyly syndrome. The purpose of this presentation is to report a new and severe case of bilateral cryptophthalmos-syndactyly.