Happy Puppet Syndrome (Puppet Children)
General: Etiology unknown; very rare form of 454i89e infantile epilepsy.
Ocular: Optic atrophy; deficiency of choroidal pigment; lightly colored irides; Brushfield spots; retinal pigment epithelium abnormalities; heterotropia; blindness.
Clinical: Mental retardation; seizures; puppet-like ataxia; paroxysms of laughter; absent speech; microcephaly; horizontal occipital depression; brachycephaly; prognathism, abnormal electroencephalographic findings.
Angelman H. 'Puppet' children: a report on three cases. Dev Med Child Neurol 1965; 7:681-688.
Bower BD, Jeavons PM. The 'happy puppet' syndrome. Arch Dis Child 1967; 42:298-302.
Massey JY, Roy FH. Ocular manifestations of the happy puppet syndrome. J Pediatr Ophthalmol 1973; 10:282-284.
Cataract, Nuclear (Coppock Cataract; Cataract, Discoid) &nbs [...] |
Aniridia and Absent Patella [...] |
Harboyan Syndrome (Congenital Corneal Dystrophy and Sensorineural Hearing Loss; Maumenee Syndrome; Corneal Dystrophy, Congenital Hereditary Endothel [...] |
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