Engelsk titel: Stickler's syndrome - an underdiagnosed condition?
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Författare:
Klingenberg C
;
Fossen K
;
Tranebjaerg L
Email: barnkc@rito.no
Språk: Nor
Antal referenser: 26
Dokumenttyp:
Fallbeskrivning
UI-nummer: 01111246
Sammanfattning
BACKGROUND : Stickler's syndrome is an autosomal dominantly inherited connective tissue disorder characterised by ocular, orofacial, skeletal and auditory features. The estimated prevalence is 1:10,000.
MATERIAL AND METHODS : We present a girl with the salient features of Stickler syndrome. Based on a literature search on Medline, we present an overview of this disorder.
RESULTS : The patient presented at birth with Pierre Robin sequence and bilateral exophtalmus. Serial ophthalmological investigations have revealed a non-progressive myopia of high degree and abnormalities of the vitreous gel architecture. From the age of three, she had joint hypermobility and joint pain. Her intelligence is normal, but she requires speech therapy because of problems with articulation.
INTERPRETATION : Recent research has provided a better understanding of the molecular genetic background of this condition. According to mutations in three genes encoding type II- and/or type XI-collagen, Stickler's syndrome can be subclassified into type 1, 2 and 3, but there is a considerable clinical overlap in symptoms. Patients with mild symptoms may be undiagnosed. Once the diagnosis is established, a coordinated multidisciplinary follow-up approach is recommended.