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  • Title: Nasal pyriform aperture stenosis and absence of the anterior pituitary gland: report of two cases.
    Author: Beregszàszi M, Léger J, Garel C, Simon D, François M, Hassan M, Czernichow P.
    Journal: J Pediatr; 1996 Jun; 128(6):858-61. PubMed ID: 8648550.
    Abstract:
    We describe two female infants with congenital nasal pyriform aperture stenosis and severe pituitary insufficiency. The anterior pituitary gland was undetectable with magnetic resonance imaging. Consanguinity of parents in both cases suggests autosomal recessive inheritance of this disorder. An early fetal developmental defect may explain this syndrome, which affects midline craniofacial structures. In patients with congenital pyriform aperture stenosis, magnetic resonance imaging of the brain and endocrine investigations should be performed for rapid diagnosis and treatment of the latter to avoid major neurologic complications.
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