Congenital corneal anaesthesia and the MURCS association: a case report.
Bilateral corneal anaesthesia and reduced sensation in the distribution of the ophthalmic division of the fifth cranial nerve associated with neuroparalytic keratitis and reduced vision is described in a 26-year-old woman with absence of the fallopian tubes, uterus, and upper vagina, a single pelvic kidney, and cervico-thoracic vertebral anomalies (the MURCS association). Other features of the disorder also present were short stature, facial asymmetry, micrognathia, and cleft palate. The neuroparalytic keratitis did not respond to tear substitutes and bilateral lateral tarsorrhaphies were eventually needed. This is the first report of congenital corneal anaesthesia in a case of MURCS.
D000015:Abnormalities, Multiple; D000328:Adult; D003315:Cornea / Q000002:abnormalities*; D005187:Fallopian Tubes / Q000002:abnormalities; D005260:Female; D006801:Humans; D007634:Keratitis / Q000150:complications; D007668:Kidney / Q000002:abnormalities; D000699:Pain Insensitivity, Congenital / Q000150:complications*; D013131:Spine / Q000002:abnormalities; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities; D014786:Vision Disorders / Q000150:complications