Peters'-Plus syndrome: report on an unusual case.
We report on a 10 1/2-years-old patient with clinical manifestations of Peters'-Plus syndrome. The patient had Peters' anomaly, slightly arched eyebrows, long eyelashes, a broad nasal tip; malformed and prominent ears, cleft lip and palate, brachydactyly, fingertip pads, severe growth deficiency, and mild mental retardation. Peters' anomaly is a defect of the anterior chamber of the eye, including central corneal opacity, thinning of the posterior aspect of the cornea and iridolenticulocorneal adhesions. Peters'-Plus syndrome is a disorder in which patients with Peters' anomaly are also found to have short stature, brachymedia, abnormal ears, cleft lip and palate, and mental retardation. Our patient showed Peters'-Plus syndrome associated with some clinical manifestations of the Kabuki make-up syndrome.
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Service for Clinical Genetics and Dysmorphology, Ospedali Galliera, Genova.
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D000015:Abnormalities, Multiple; D002648:Child; D002971:Cleft Lip; D002972:Cleft Palate; D005124:Eye Abnormalities; D006801:Humans; D008297:Male; D013577:Syndrome