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The CHARGE association and athyreosis.

1991; BMJ; Volume: 28; Issue: 3 Linguagem: Inglês

10.1136/jmg.28.3.207

1468-6244

JoséMaría Marín, Bruno García del Blanco, Ana Quintana, Rosa Barrio, M. T. Sordo, Carlos Grasa,

Head and Neck Anomalies

We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux). The coexistence of these two disorders has not been described previously.