Melnick-Needles syndrome.
A 10-year-old female with a generalized bone dysplasia was found to have a rare condition, Melnick-Needles syndrome. Characteristic clinical features of this syndrome include exophthalmos, hypertelorism, micrognathia, malaligned teeth, and large ears in a person with multiple bone deformities. In addition to the usual characteristic clinical findings, sclerocornea and cornea plana were also present in this patient. This is the first case of Melnick-Needles syndrome reported in the ophthalmological literature and the first case reported with ophthalmological findings other than exophthalmos and strabismus.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D003025:Clubfoot / Q000150:complications; D003315:Cornea / Q000002:abnormalities; D005094:Exophthalmos / Q000150:complications; D005124:Eye Abnormalities; D005145:Face; D005260:Female; D006801:Humans; D008297:Male; D009408:Nerve Compression Syndromes / Q000150:complications; D011859:Radiography; D012590:Sclera / Q000002:abnormalities; D013285:Strabismus / Q000150:complications*; D013577:Syndrome