Orofaciodigital syndrome associated with agenesis of the pituitary gland

M Buño, J Pozo, MT Muñoz, M Espejo… - Anales espanoles de …, 2000 - europepmc.org
M Buño, J Pozo, MT Muñoz, M Espejo, J Argente
Anales espanoles de pediatria, 2000europepmc.org
… To describe the case of patients with OFDS associated with the absence of the
hypophysis and panhypopituitarism. 2. To analyse whether the association between the …
Cranial magnetic resonance imaging showed a smooth sella turcica, lacking the pituitary
gland, and the absence of the normal sign of neurohypophysis. Replacement therapy with
GH and 1-thyroxine was started. … We report a patient with the clinical characteristics of
OFDS type II, associated with the absence of hypophysis and panhypopituitarism. …
Objective
1. To describe the case of patients with OFDS associated with the absence of the hypophysis and panhypopituitarism. 2. To analyse whether the association between the agenesis of the hypophysis with OFDS represents a new type of this syndrome.
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