orofaciodigital syndromes/ophthalmoplegia

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NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

1 matokeo

Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

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Ingia / Ingia

We report two sibs with features overlapping those of orofaciodigital syndrome type VI (Varadi syndrome). Both presented at birth with oculomotor abnormalities, dysmorphic facial features, and dysgenesis of the cerebellar vermis. There were minimal oral manifestations (high arched palate) in both of

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Herbal & Natural Medicine

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