NASAL PYRIFORM APERTURE STENOSIS AND THE HOLOPROSENCEPHALY SPECTRUM

Recent reports have described congenital nasal pyriform aperture steno sis, but do not address its etiology in detail. We describe a child wi th nasal pyriform aperture stenosis, submucus cleft palate, and hypopl astic maxillary sinuses. Chromosome analysis revealed a ring chromosom e 18. Awareness of the association of midline facial defects with midl ine brain defects allowed us to predict that features of the holoprose ncephaly sequence would be found. Subsequent evaluation revealed growt h hormone deficit. Eventually the child manifested a single central in cisor. We review the association between midline facial defects and ho loprosencephaly to remind the otolaryngologist of the need to look at the whole patient as he treats specific upper airway problems.