PP73. STICKLER SYNDROME: FIRST CASE FROM TÜRKIYE
DAVUT PEHLIVAN1, Sukru Ozturk2, Kivanc Cefle2, Nilgun Duman3, Sukru Palanduz2 1. Istanbul University Istanbul Medical Faculty, Department of Medical Genetics 2. Istanbul University Istanbul Medical Faculty, Department of Internal Medicine Division of Medical Genetics 3: Institute of Health Science, Department of Genetics e-mail: davutpehlivan@yahoo.com
*Corresponding Author:
page: 80

Abstract

The Stickler syndrome (hereditary arthro-ophtalmopathy) is a dominantly inherited disorder of collagen connective tissue. It is the commonest inherited cause of retinal detachment in childhood. The clinical features of Stickler syndrome is characterized by oculer manifestations, arthtitic changes, orofacial features and deafness. We here present a Turkish boy at 7 years and 11 monthes of age who referred to our clinic for genetic consultation. In his postnatal history he had congenital bilateral cataract plus severe myopia and operated for both cataract and pes equinovarus. On physical examination head is bitemporally depressed, he has hemangioma at the forehead, proptosis, broad nasal bridge, anteverted nostrils, long philtrum. His growth parameters are as follows; weight: 24 kg (75 percentile), height: 104 cm (< 3 percentile; mean for 4,5 years of age), head circumference: 51,5 cm (25-50 percentile). Karyotype was established as 46,XY. Cranium X-ray: Normal. Sp inal-pelvic X-ray showed biconcave vertebrae, spina bifida, squaring of iliac wings and narrow acetabular angle. Echocardiography: Normal. Mucopolysaccharidose Spot Test: Negative. Audiometric test revealed both sensorineural and conductive type hearing loss in left ear and sensorineutal type hearing loss in the right ear. Based on clinical findings such as ocular, skeleletal, orofacial features and deafness, the patient was diagnosed with Stickler syndrome. To the best of our knowledge, this is the first case with Stickler syndrome reported from Türkiye.




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