Editor—Snead and Yates1 have recently reviewed clinical and molecular findings in Stickler syndrome, the autosomal dominant connective tissue disorder characterised by ocular manifestations, facial abnormalities, cleft palate, sensorineural hearing loss, and degeneration of epiphyseal and articular cartilage (hereditary progressive arthro-ophthalmopathy).1-4 Mutations in the structural genes for collagen II (COL2A1) and collagen XI (COL11A1,COL11A2) have been identified in patients with a Stickler syndrome phenotype.5-13 Based on locus heterogeneity, a subclassification of COL2A1associated Stickler syndrome type I, COL11A1associated Stickler syndrome type III, andCOL11A2 associated Stickler syndrome type II was established (OMIM 108300, 120280, and 184840). A clinical subclassification based on the presence or absence of an ocular phenotype, and on the features of the ocular phenotype, correlates reasonably well with the genotype.1 9

Clinical variability in Stickler syndrome is well known,6 14 15 but correlations with specific mutations are scarce. We report a novel COL2A1 gene mutation found in a patient with flat face, cleft palate, myopia, and hearing loss (Stickler syndrome) and unexpectedly also in her father and her paternal grandmother who were considered to be healthy. The patient is the first child of healthy, non-consanguineous Swiss parents. The pregnancy was uneventful and she was delivered at term by caesarean section because of breech position. Birth weight was 3890 g (90th centile), birth length 50 cm (50th centile), and head circumference 37 cm (>97th centile). Macrocephaly and facial dysmorphism were noted in the neonatal period, including a flat midface, deep set ears, exophthalmos, palpebral oedema with telangiectasia, …