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Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features
A Baldellou1, J Boné, M Tamparillas
1Hospital Infantil Miguel Servet, Zaragoza, Spain.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1991
Abstract:
A boy with primary hypoparathyroidism and dysmorphic features suggesting a partial DiGeorge sequence is presented. Different possibilities of genetic counseling are considered in the absence of a definitive etiological diagnosis.