Pierre-robin syndrome (robin syndrome; micrognathia-glossoptosis syndrome)

General: Etiology unknown; manifestations at birth; pathogenesis based on arrested fetal development; history 838f53i of intrauterine disturbance in early pregnancy (25% of cases); also increased incidence in offspring of mothers age 35 years or older; pathogenesis is thought to be incomplete development of the first brachial arch, which forms the maxilla and mandible.

Ocular: Microphthalmos; proptosis; ptosis; high myopia; glaucoma; cataract (rare); retinal disinsertion; megalocornea; iris atrophy; blue sclera; esotropia; conjunctivitis; distichiasis; vitreoretinal degeneration; retinal detachments.

Clinical: Micrognathia; cleft palate; glossoptosis; cyanosis; facial expression birdlike with flat base of nose and high-arched deformed palate with or without cleft; difficulty breathing.

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