PMC3295639_01
Clinical features of our patient at the age of three years. Dysmorphic facial features include a prominent nasal bridge, hypertelorism and down-slanting palpebral fissures. Other features include (a) broad thumbs and fingers and (b) great toes.
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F1
A physical examination at one year of age showed inspiratory stridor and dysmorphic features, such as a prominent nasal bridge, hypertelorism, down-slanting palpebral fissures, a small mouth, micrognathia, low set ears, sparse hair and bilateral broad thumbs and great toes (Figure 1).