[Stickler syndrome--case report].
Stickler syndrome is an autosomal-dominant inherited disorder of connective tissue related to incorrect collagen structure. Characteristic signs include ocular, hearing, and joint and bone abnormalities. It is hard to assess morbidity of Polish population because of lack of full syndrome's expression. In this paper we report 6 years old boy, who presented features, first characterized by Stickler in 1965.
Piszcz
Małgorzata
M
Klinika Otolaryngologii Dzieciecej AM, Białymstoku.
Hassmann-Poznańska
Elzbieta
E
Mrugacz
Małgorzata
M
D001847:Bone Diseases / Q000150:complications*; D002648:Child; D003240:Connective Tissue Diseases / Q000150:complications* / Q000235:genetics*; D003638:Deafness / Q000150:complications*; D006801:Humans; D007592:Joint Diseases / Q000150:complications*; D008297:Male; D009216:Myopia / Q000150:complications*; D013577:Syndrome