The CHARGE association and athyreosis.
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.
Marín
J F
JF
Department of Paediatric Endocrinology, Hospital Ramón y Cajal, Madrid, Spain.
García
B
B
Quintana
A
A
Barrio
R
R
Sordo
M T
MT
Lozano
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D003103:Coloboma / Q000150:complications; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007037:Hypothyroidism / Q000150:complications / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male