Nasopharyngeal Dysmorphology In The Syndromes of Apert and Crouzon SALLY J. PETERSON-FALZONE, Ph.D. SAMUEL PRUZANSKY, D.D.S., M.S. PAMELA J. PARRIS, M.S. JOANNE L. LAFFER, M.S. Chicago, Illinors 60680 Serial cephalometric studies on 29 patients with Apert syndrome and 26 patients with Crouzon disease confirmed and expanded previously reported observations of dysmor- phology of the nasopharynx and contiguous structures. Particularly remarkable were alterations in pharyngeal depth, pharyngeal height, length of the posterior cranial base, and length of the hard and soft palate. The distortions and displacements contributing to diminition of the nasopharyngeal space were typically present early in life and became more severe as the patient matured. Implications for care and treatment planning are discussed. KEY WORDS: Cephalometrics, Apert syndrome, Crouzon disease, nasopharynx In 1974, the current authors reported on tine processes. Peterson and Pruzansky (1974) palatal anomalies in a series of 19 patients found these accumulations to occur in both with Apert syndrome and 13 patients with Apert and Crouzon patients but to be more Crouzon disease. The focus of that report was consistent in occurrence and more severe in twofold: (a) a detailed description of the the former. No relationship was found be- anomalous configuration of the maxillary tween presence of either a bifid uvula or an arch and palatal vault, both of which had overt cleft palate and either the abnormal size been at least partially described by previous of the soft palate or the aberrant configuration investigators but only in Apert patients of the palatal vault, which creates the image (Blank, 1960; Buchanan, 1968; Buckley and of a pseudo-cleft. Although the data utilized Yakovlev, 1948; Ferriman, 1941; Gorlin and in that report were cross-sectional, the ceph- Pindborg, 1964; Solomon et al., 1973), and alometric measurements and dental study (b) the first documentation of increased casts taken on patients ranging in age from length and thickness of the soft palate in less than 3 months to over 30 years strongly comparison to the norms of Subtelny (1957). suggested growing severity of these palatal Solomon et al. in 1973 had described the age- anomalies with increasing age. The signifi- dependent changes in the anomalous config- cance of these findings in relationship to ve- uration of the palatal vault in Apert syn- lopharyngeal function, nasal respiratory phys- drome, the major thrust of that report being iology, and speech did not escape our atten- a histochemical description of the contents of tion. the soft tissue accumulations along the pala- Review of the Literature The authors are affiliated with the Center for Crani- ofacial Anomalies, Abraham Lincoln School of Medicine, As a result of the surgical reconstruction University of Illinois Medical Center, Chicago, Illinois. procedures introduced by Tessier (1971), Dr. Peterson-Falzone is Associate Professor, Department there has been a proliferation of literature of Otolaryngology, and Head, Speech and Hearing Sec- concerned with the clinical study and man- tion of CCFA. Dr. Pruzansky is Professor of Dentistry, Department of Pediatrics and Director of Research of agement of patients with syndromes including CCFA. Ms. Parris and Ms. Laffer are Research Associ- premature craniofacial synostosis. Previous ates. radiographic studies (Aleksandroya et al., This investigation was supported in part by grants 1979; Ebel, 1974; Giuffre et al., 1978; Matras from the National Institute for Dental Research, DE- 02872, and from Maternal and Child Health, Depart- et al., 1977) focused mainly on the osseous ment of Health and Human Services, MCPD-0128842. deformities of the neurocranium and facial 237 238 Cleft Palate Journal, October 1981, Vol. 18 No. 4 skeleton with scant attention to the nasopha- (b) nasopharyngeal depth was less than ryngeal space. An exception was a 1979 paper normal in 14 of the 15 patients with by McCarthy et al. These authors used airflow Crouzon disease. studies, articulation tests, and lateral roent- Unfortunately, the remainder of the findings gencephalometry to study velopharyngeal with regard to nasopharyngeal height and function before and after maxillary advance- velar length are not interpretable for the ment in 40 patients, including four with Apert Apert and Crouzon patients since data on syndrome and 15 with Crouzon disease. With them were not segregated from those for other specific regard to preoperative radiographic patients. findings, McCarthy et al. (1979) reported Although not primarily a radiographic that: study, the 1977 report by Witzel and Munro (a) nasopharyngeal height and depth were on the effects of facial osteotomies on speech less than normal in all four Apert pa- and velopharyngeal function included some tients; pertinent observations on nasopharyngeal air- CCFA 2224 d AGE 10 - 10 Lez Tan FIGURE 1. Facial and intraoral features in Apert syndrome (CCFA 2224). Note accumulations of soft tissue in palatal vault. CCEA 35895 AGE 16 - 2 FIGURE 2. Facial and oral features in Crouzon disease (CCFA 3589). Peterson-Falzone ef al., NASOPHARYNGEAL DYSMORPHOLOGY 239 space in a series of 11 Apert and Crouzon 5. D = a point on the posterior pharyn- patients. The authors reported that, prior to geal wall where the extended palatal LeFort III osteotomies, five Apert and two plane intersects with the wall Crouzon patients had hyponasality, "absent" W = a point on the posterior superior O nasal air emission, abnormally long soft pal- surface of the soft palate which is ates, and pharyngeal depth described as "al- one end point of the line marking most negligible." Following surgery, "velo- the greatest width of the resting soft pharyngeal function became possible" in one palate Crouzon and four Apert patients. The authors 7. L = the inferior tip of the resting soft did not report on the postoperative state in palate the remaining Apert and Crouzon patients in 8. W' = a point on the anterior inferior their series. surface of the resting soft palate As is evident from the above, a concurrence which is the end of the line W-W' of interest in nasopharyngeal morphology marking the greatest width of the among those centers treating patients with resting soft palate Apert syndrome and Crouzon disease is pre- 9. PNS' = anatomical posterior nasal dictable since this morphology directly affects spine when visible several areas of function-speech, hearing, 10. PNS* = the point at which the ptery- breathing, head-to-neck posture, and tongue gomaxillary fissure crosses the pala- posture-particularly in the preoperative tal plane state. The current report represents an exten- 11. ANS = anterior nasal spine sion of earlier roentgenographic studies (Pe- The following measurements were selected terson and Pruzansky, 1974, and Peterson- from among those produced by the protocol: Falzone et al., 1978). Relationships to other 1. Soft palate length at rest (PNS-L) forms of assessment are discussed. 2. Soft palate thickness at rest (W-W) 3. Hard palate length measured from an- Procedure atomic PNS (ANS-PNS" Data utilized for this report were a mixture 4. Hard palate length measured from con- of longitudinal and cross-sectional cephalo- structed PNS (ANS-PNS*) metric measurements on a series of 29 patients 5. Pharyngeal height (H-PNS) with Apert syndrome and 26 with Crouzon 6. Pharyngeal depth measured from ana- disease. Whereas our previous paper (1978) tomic PNS (D-PNS" utilized only data on patients for whom lon- 7. Pharyngeal depth measured from con- gitudinal records were available, for purposes structed PNS (D-PNS*) of this study we used all films available within 8. Anterior cranial base (S-Na) each age category. Thus some patients were 9. Posterior cranial base (Ba-5) represented only once, (i.e., infants with only 10. Cranial base angle (Ba-S-Na) one set of films) while, for others, longitudinal records extending over a number of years were Results available. The longest series of records ex- Separate means and standard deviations tended from three to 24 years of age. were computed for the Apert and Crouzon A total of 232 preoperative lateral cepha- patients at each of the ages indicated in Table lometric films were digitized on an IMLAC 1. Because the number of patients for whom system. The digitization protocol operates on a readable lateral cephalometric film was a series of 28 points designed for analysis of available varied from age to age and because craniofacial morphology in a variety of syn- many patients were represented more than dromes. Among the points recorded are once in the data by virtue of their longitudinal 1. Na = nasion records, no attempt was made to analyze the 2. H = an erected point where a perpen- data statistically other than plotting the dicular from the palatal plane at means against graphs representing the 95% PNS intersects with line Na-Ba confidence intervals as computed from the 3. S5 = midpoint of sella data of Subtelny (1957) for measurements of 4. Ba = basion soft palate length (Figure 3), palatal thickness 240 Cleft Palate Journal, October 1981, Vol. 18 No. 4 TABLE 1. Number of Apert and Crouzon Patients from Whom Cephalometric Records Were Available at Soft Palate Thickness the Ages Indicated. Years Taken as Whole Years (i.e., 9 ---- APERT Years = 9-0-0 Through 9-11-30). ————— CROUZON Age Apert Crouzon 3 mos -I ip 6 mos 0 i- MILLIMETERS 9 mos un G3 A yr u ND 2 yrs 12 © ®) 3 yrs AGE IN YEARS O & 4 yrs Normative data from Subtelny, Plast. Recon. Surg. 19, 49 - 62,1957 O orf 5 yrs FIGURE 4. Means for palatal thickness plotted 1 6 yrs against the normative data of Subtelny (1957). G N 7 yrs AB rf 8 yrs O0 Oy 9 yrs J B Pharyngeal Height 10 yrs 35 7 J Gr 11 yrs u on 12 yrs 30 { Gy 13 yrs ---- APERT Dl B ----- CrRoUZON 14 yrs 25 - GQ) i- 15 yrs h Qi * nar a us ® 16 yrs 20 { B Or 17 yrs Q G 18+ yrs ND > MILLIMETERS Length of Soft Palate 45 - ---- APERT ----- CROUZON Io 200 40° 60°80 jo 12 AGE IN YEARS Normative data from Subteiny, Plast.