Nasopharyngeal dysmorphology in the syndromes of Apert and Crouzon.

Results of this cephalometric study of the dimensions of the nasopharynx in the syndromes of Apert and Crouzon concur with information previously reported both from this and other centers, enlarging the data base to direct attention to changes in these dimensions with growth of the patient. Alterations of the nasopharyngeal architecture in these syndromes include reduction in pharyngeal height, width, and depth; increased length and thickness of the velum; decreased length of the hard palate; and marked reduction in the posterior cranial base with somewhat less remarkable changes in the anterior cranial base. Increased basilar kyphosis evident in some patients contributes to the reduction in nasopharyngeal space. Most of these deviations are present early in life and tend to become worse as the patient matures. The combination of reduced nasopharyngeal dimensions and reduced patency of the posterior nasal choanae poses the threat of respiratory embarrassment and cor pulmonale, particularly in the young child.

The otologic manifestations of mandibulofacial dysostosis.

Sixteen patients (32 ears) with diagnoses of mandibulofacial dysostosis were reviewed. The characteristic otologic manifestations of the syndrome were delineated, found to be bilateral, and consist of the following: 1. Mild symmetric deformity of the auricle (grade 1 microtia). 2. Agenesis or hypoplastic development of the mastoid and mastoid antrum. 3. Absence of the external auditory canal. 4. Marked narrowing or agenesis of the middle ear cleft. 5. Agenesis or severe malformation of the malleus and incus. When present, the malleus and incus are most often rudimentary, fused to form a conglomerate mass, and ankylosed to either the atretic plate, epitympanum, or both. 6. Stapedial malformations which usually consist of a deformed suprastructure. 7. Frequently the tegmen assumes a more inferior (low lying) position than normal. 8. Occasionally, the facial nerve pursues an abnormal course and is located more anteriorly than would be expected. 9. A normal inner ear. 10. Normal bone conduction with a marked (greater than 50 dB) conductive hearing loss. 11. Marked disparity between the degree of auricular deformity (mild; grade 1 microtia) and the degree of deformity of the remaining first and second branchial arch derivatives that constitute the external and middle ears (severe).