Importance of early diagnosis of Stickler syndrome in newborns

Stickler syndrome. Epidemiology of retinal detachment

“…Palisades degeneration are frequent, as well as the association with myopia. 12 As conclusion, it can be said that in the present series retina detachment developed mainly in the second decade of life and that surgery exhibited a low failure rate. Half of the patients in this series (50%) had cataracts, which confirms the findings of other published series such as that of Seery et al with 49.8%.…”

Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre

“…In the current literature, incidences between 2.9 and 30% are reported [2,8,10,[12][13][14][15]. In this study, 10.4% of the PRS population was diagnosed with SS, which was the most common syndromic diagnosis.…”

“…Follow-up should be continued since clinical manifestations of SS can be absent at birth, but might develop later in life. Genetic counselling should be provided [13]. Evans et al recommended an initial ophtalmologic evaluation between 6 and 12 months of age and routine surveillance thereafter for all PRS patients [2].…”

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature

“…Some clinical diagnostic criteria for STL1 have been proposed, but they have not been validated [ 1 , 19 ]. Authors of several studies have reported that Stickler syndrome is the basis for about 20–50% of infants with Pierre Robin sequence [ 20 , 21 ]. It was suggested that Stickler syndrome should be considered in any neonates with Pierre Robin sequence, particularly in those with a family history of cleft palate and in patients with dominantly inherited myopia, nontraumatic retinal detachment, and/or mild spondyloepiphyseal dysplasia [ 22 ].…”