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  • Title: Nasal pyriform aperture stenosis and the holoprosencephaly spectrum.
    Author: Tavin E, Stecker E, Marion R.
    Journal: Int J Pediatr Otorhinolaryngol; 1994 Jan; 28(2-3):199-204. PubMed ID: 8157419.
    Abstract:
    Recent reports have described congenital nasal pyriform aperture stenosis, but do not address its etiology in detail. We describe a child with nasal pyriform aperture stenosis, submucus cleft palate, and hypoplastic maxillary sinuses. Chromosome analysis revealed a ring chromosome 18. Awareness of the association of midline facial defects with midline brain defects allowed us to predict that features of the holoprosencephaly sequence would be found. Subsequent evaluation revealed growth hormone deficit. Eventually the child manifested a single central incisor. We review the association between midline facial defects and holoprosencephaly to remind the otolaryngologist of the need to look at the whole patient as he treats specific upper airway problems.
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