BACKGROUND: @entity4712 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 @entity1 with the salient features of @entity4712 . Based on a literature search on Medline, we present an overview of this disorder. RESULTS: The @entity1 presented at birth with Pierre Robin sequence and bilateral exophtalmus. Serial ophthalmological investigations have revealed a non-progressive @entity1714 of high degree and @entity854 . From the age of three, she had joint @entity8018 and @entity158 . 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, @entity4712 can be subclassified into type 1, 2 and 3, but there is a considerable clinical overlap in symptoms. @entity1 with mild symptoms may be undiagnosed. Once the diagnosis is established, a coordinated multidisciplinary follow-up approach is recommended.

[ XXXX --an underdiagnosed condition?].

@entity1 :: ('9606', 'Species') :: ['girl', 'Patients', 'patient'] @entity4712 :: ('MESH:C580472', 'Disease') :: ["Stickler's syndrome", 'Stickler syndrome'] @entity854 :: ('MESH:D018376', 'Disease') :: ['abnormalities of the vitreous gel architecture'] @entity158 :: ('MESH:D010146', 'Disease') :: ['joint pain'] @entity1714 :: ('MESH:D009216', 'Disease') :: ['myopia'] @entity8018 :: ('MESH:C536196', 'Disease') :: ['hypermobility']
@entity4712 :: (MESH:C580472,Disease) :: ['Stickler's syndrome']
