Ocular abnormalities in the median cleft face syndrome.
An 8-month-old infant boy with median facial cleft syndrome had eyelid coloboma, symblepharon, and a cytic mass in the left upper eyelid. The mass proved to be an ectatic cornea containing a large cystic lens. Maldevelopment of the entire anterior segment of the eye was also present, although the posterior globe was well formed. We postulate that an area of localized abnormal mesodermal differentiation and fusion at the 17- to 20-mm stage of development served as a common mechanism for all the defects noted.
D000015:Abnormalities, Multiple / Q000473:pathology; D002971:Cleft Lip / Q000150:complications / Q000473:pathology; D002972:Cleft Palate / Q000150:complications / Q000473:pathology; D003103:Coloboma / Q000150:complications; D003315:Cornea / Q000002:abnormalities; D003394:Craniofacial Dysostosis / Q000150:complications*; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005143:Eyelids / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D006197:Hair; D006801:Humans; D006972:Hypertelorism / Q000150:complications* / Q000473:pathology; D007223:Infant; D008297:Male; D009666:Nose / Q000473:pathology; D009667:Nose Deformities, Acquired; D009915:Orbit / Q000473:pathology; D012886:Skull / Q000002:abnormalities / Q000473:pathology; D013577:Syndrome; D000267:Tissue Adhesions