J Oral Maxillolac Surg 49.693·691.1991

The Incidence and Relationship of Cervical Spine Anomalies in Patients With Cleft Lip and/or Palate BRUCE B. HORSWELL, DDS, MS* The relationship, incidence, and distribution of cervical spine anomalies were assessed in 468 patients with cleft lip and/or palate. The patients were placed into four groups: lip and/or alveolar; complete unilateral or bilateral; isolated palatal; and soft palate or submucous clefts. Cervical anomalies were observed in 22% of the cleft patients and in 7% of the non cleft group. Patients with soft palate and submucous clefts had the highest incidence of vertebral anomalies (45%), whereas patients with cleft lip and/or alveolus had an incidence similar to the noncleft group. Patients with complete unilateral and bilateral clefts also had a higher incidence (15.6% to 19.0%) of anomalies than the noncleft group. Cervical anomalies occurred primarily in the occipital-C1-C2 region. The possible implications of these findings are discussed.

Pruzansky's" and Schprintzen'sf exhaustive studies showed a high (44% and 63.4%, respectively) incidence of associated anomalie s. Reported anomalies have occurred in most systems , particularly the central nervous, cardiac, and musculoskeletal systems. Delayed growth and/or small stature has also been observed." There also have been conflicting reports regarding the incidence of associated anomalies in cleft types. For example, defects in the cervical spine are a common finding in craniofacial syndromes (Figs I to 4). In assessing spinal anomalies in clefting, Minaba? and Sandharn" reported that although these anomalies occurred more often in CLP patients, no relationship to the type of cleft could be established, whereas Ross and Lindsay" and Osborne et al'? found a higher incidence of cervical spine anomalies (CSA) in patients with secondary palatal clefts than in those with primary palatal clefts. Establishing a significant relationship of associated anomalies in CLP is important for several reasons. First, this will improve screening and evaluation mechanisms in departments dealing with cleft palate and other craniofacial anomalies because of increased vigilance on the part of providers. It will also help provide optimal comprehensive care because early identification of problems may be made, proper consultations obtained, and appropriate

Cleft lip and/or palate (CLP) is the most common craniofacial anomaly. It has been reported in over 250 syndromes, in association with other malformations, and as a solitary finding. I Schprintzen and coworkers I have advanced the theory that CLP is actually part of a "malformation spectrum" because of its common association with other abnormalities. Clefting, then, may represent one component of a malformation spectrum caused by a common etiologic developmental error or force. The association of CLP with other anomalies has been variously reported. Some investigators have not found a significant association of abnormalities with CLP (about 3%).2.3 However, Rollnick and

• Assistant Professor, Department of Oral and Maxillofacial Surgery , School of Dental Medicine, University of Connecticul Health Center, Farmington. Presented at the AAOMS 71st annu al meeting in San Francisco, September 22, 1989. Supported by the Department of OMFS Research Fund University of Connecticut Health Center. Addre ss correspondence and reprint requests to Dr Horswell: Department of Oral and Maxillofacial Surgery, School of Dental Medicine, University of Connecticut Health Center, Farmington . CT 06032. © 1991 American Association of Oral and Maxillofacial Surgeons

0278-2391 /91/4907-0006$3 .00/0

693

694

CERVICAL ANOMALIES IN CLEFf LIP AND PALATE

C2-3, C4·5-6 FUSION -

LUCLP

SPINA BIFIDA -

WCLP

o J

FIGURE I. Fusion, or failure of segmentation, of cervical vertebrae 2-3 and 4-5-6 in a Klippel-Feil type anomaly in a left unilateral cleft lip and palate (acetate tracing of cephalograph).

treatment planning performed.l'" Finally, corroboration of CLP (types) with associated anomalies may lead to a greater understanding of the embryonic phenomena underlying the malformation process.Ui'? This study was undertaken to determine the relationship, if any, and the incidence and distribution of CSA in CLP types in two cleft palate clinic patient groups .. Statistical comparisons' were then made of the incidence of CSA among cleft-type groups. Materials and Methods

Patient files from two University Cleft Palate Clinics were retrospectively reviewed for suitability

OCCIPITALIZATION -

BCLP

FIGURE 2. Occipitalization of the atlas where the body has partially fused to the basicranium (acetate tracing of cephalograph).

d

FIGURE 3. Spina bifida, or spondylorachisis of the spinous processes, in C-I and C-3 (acetate tracing of cephalograph).

for inclusion in the study. Records were selected if there were two lateral cephalographs showing the entire cervical spine and the patient's age was between 7 to 18 years. The latter was important because of the level of immaturity in the cervical spine prior to age 7. From 793 patient records, 468 met the criteria for inclusion in the study. Categorization of CLP types was based on primary and secondary palatal schemes, with c1efttype inclusion as follows: primary, lip and/or alveolar process; primary and secondary, right and left unilateral CLP; and bilateral CLP; secondary, isolated hard and soft palate; and submucous or soft palate.

C2·5 PROCESS DYSPLASIA -

ICP ~

FIGURE 4. Generalized dysplasia of the vertebral processes in C2-5 in a patient with an isolated cleft palate (acetate tracing of cephalograph).

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DRUCE D. HORSWELL

Cervical spine radiographs were assessed for hyperplastic and hypoplastic defects, eg, failure of segmentation (Fig I), ossicle formation, occipitalization of the atlas (Fig 2), spina bifida (Fig 3), dysplasia (Fig 4). Also, because researchers have found a higher incidence of congenital anomalies at the CI-2 level than in the lower cervical spine in some skeletal disorders, distribution of anomalies was also determined by placing CSA into either of two groups: occipital-CI-C2 or C3-7. Cervical spine anomaly assessment was performed by one person (BBH). As a control group, 100 records were randomly selected from a pool of orthodontic "normal" patients, proportionally distributed for age and sex. Assessment criteria were the same as for the cleft group. Incidence (percentages) of CSA was determined for each cleft type. Comparison of the incidences to establish if any significant differences existed between groups was made using X2 analysis. Confidence level was established at P ~ .05. Results The sample breakdown for cleft-type group and sex distribution is shown in Table I. Incomplete clefts of both the primary and secondary palates were placed in a separate group. For example, an alveolar ridge notch and cleft soft palate were placed into the "incomplete" cleft group. In the isolated primary and secondary cleft palate groups, there was a female predominance, whereas in the complete primary and secondary cleft palate group, males predominated at a ratio of nearly 2: I. Table 1. Sample Composition and Cleft Vs Noncleft Incidence of CSA Sex

Cleft Group

n

Noncleft 1° Palate BCLP L-UCLP R-UCLP 2° Palate SMC Incomplete Total

Table 1 also lists the number of CLP patients with CSA and the corresponding incidence. The cleft groups had a higher incidence of CSA than the noncleft group. However, the incidence in the primary palatal cleft group was not significantly different from that in the noncleft group. The incomplete cleft group also was not significantly different from the noncleft group in CSA incidence. There was no difference in CSA occurrence between any of the groups with complete clefts of the primary and secondary palates (bilateral CLP, right and left unilateral CLP). Patients with secondary palatal clefts showed a tendency toward a higher incidence of CSA than those with primary and primary-secondary palatal clefts, although the difference was not statistically significant. The group with soft palatal and submucous clefts had a significantly higher incidence of CSA than all other cleft types. The upper cervical spine (occipital-CI-C2) had nearly twice the number of anomalies as the lower cervical spine (C3-7). Each cleft group, except the one with complete cleft of the secondary palate, tended to follow this distribution (Table 2). Most of the anomalies consisted of hypoplastic defects such as spina bifida or vertebral body/process dysplasia. Discussion Cleft lip and/or palate occurring with other anomalies has been widely reported; however, it has only been recently that an association of clefting anomalies has been proposed as a malformation spectrum.F" Thus, a CLP patient may have other subtle or, as yet subclinical, abnormalities that may go undetected if not fully investigated.P Likewise, many patients with major limb or organ defects may have a cleft soft palate or submucous cleft that may go undetected. The true association of such anom-

Incidence (%)

M

F

100 24 % 125 67 63 60 33

57 10 66 81 43 25 27 14

43 14 30 44 24 38 33 19

7/100 (7) 3/24 (12.5) 15/% (15.6) 22/125 (17.6) 13/67 (19.4) 20/63 (31.7) 27/60 (45.0) 3/33 (9.0)

468

266

202

103/468 (22.0)

Significance NS S* S* S* St

Stt NS S*

Abbreviations: BCLP, bilateral CLP; L-UCLP, left unilateral CLP; NS, not significantly different from noncleft; R-UCLP, right unilateral CLP; S, significantly different from noncleft; SMC, submucous or soft palate. * At .05 confidence level, X2 • tAt .001 confidence level, X2 • t Significantly different from all other cleft types, P < .05.

Table 2.

Noncleft Cleft 1° Palate BCLP L-UCLP* R-UCLP* 2° Palate SMC* Incomplete

Distribution of CSA in Cleft Types OCC-CI-C2

C3-7

6 75 3 II 22 II 8 17 3

I 41 0 4 6 8 12 II 0

Abbreviations: BCLP, bilateral CLP; L-UCLP, left unilateral CLP; R-UCLP, right unilateral CLP; SMC. submucous or soft palate. * Included several patients who exhibited CSA in both cervical regions.

696 alies, therefore, may not be realized and, in fact, be underreported. It is important to determine if relationships exist between abnormalities or defects. 13 To deliver comprehensive care for the CLP patient, health providers need to know if laboratory investigations are necessary or if consultations should be obtained from other disciplines prior to carrying out proposed treatment. For example, an infant with a metabolic deficiency or cardiac defect who is to undergo primary palatal repair may have a complicated perioperative course if these are undetected. The stress of an anesthetic and surgery may manifest a heretofore "quiet" malformation. Proper pediatric and clinical genetic investigations may be warranted." When investigating craniofacial dysmorphology, it is tempting to make an association between two or more defects and link them to a common embryonic event. Noden'" wisely cautions that an association should be based on a fault(s) at a basic cellular level in which disruption of mesenchymal development may lead to abnormal migration, induction, and/or proliferation of embryonic tissues. These local disruptions may occur at sites distant from the palatal shelves (eg, cervical spine), yet, nevertheless cause maldevelopment in these.tissues.V On this basis, a relationship between CLP and cervical spine defects may be theorized. Such an association has been variously reported in the past. Cohney'? first commented on the presence of clefting in Klippel-Feil deformity of the spine. Ross and Lindsay" speculated on the influence of maldevelopment in the cervical spine in the etiology of cleft palate. Fraser and Pashayarr' found no increased association of CSA in cleft over noncleft patients. However, Osborne et al.!" Rollnick and Pruzansky," and Sandham" reported an incidence of 13% to 16% in several cleft types. None of the authors reported significant symptoms in patients with identified CSA. This retrospective study of 468 CLP patients determined that CSA occurred in 22% of the cleft group. This is greater than the 13.3% and 14.1% incidence reported by Sandham" and Osborne.I" respectively. There appears to be no difference between the CSA involvement in patients with isolated primary palatal clefts and those in the noncleft group, supporting Ross and Lindsay's" statement that cleft lip rarely is associated with cervical anomalies. This study tends to support Osborne's'F" and Ross and Lindsay's" findings that secondary palatal clefts are associated with a higher incidence of CSA involvement than other cleft types. To date, the association of soft palate or submucous clefts and CSA involvement has not been re-

CERVICAL ANOMALIES IN CLEFT LIP AND PALATE

viewed. This study found that these patients had a 45% association with CSA, which is significantly higher than other cleft types, supporting Schprintzen and coworkers'F' finding that the submucous cleft is most often associated with other anomalies (77% in their reviews). This is a surprising association, because the submucous cleft appears to be a clinically more "benign" entity than the complete cleft. The association of CSA and soft palate/ submucous clefts suggests that many patients may indeed have multiple anomaly syndromes, with clefting (eg, velar insufficiency and hypernasal speech) as one feature. The distribution of cervical anomalies was predominantly in the upper cervical spine (nearly 2: 1). This is in agreement with reports that comment on distribution of congenital vertebral anomalies in syndromic and multiple anomaly patients. 17 - 19 Bland l 9 points out that presomitic and somitic development in the upper cervical spine is transitional and unstable, and environmental forces or teratogens may adversely influence that development (coincidentally, in the developing face as well). , .. The implications that CLP (and, in particular, soft palatal clefts) may be part of a multiple malformation entity are great. They suggest that many cleft patients are not adequately evaluated and/or managed. Conversely, many patients with an associated defect(s) may also have a submucous cleft, and they may not be receiving optimal assessment and care. Careful evaluation may facilitate identification of pathogenetic factors in a malformation entity or obscure syndrome.P The patient and family may then be provided with proper genetic counseling, recommendations for immediate and future treatment may specifically be made, and a more accurate prognosis rendered. Acknowledgment I wish to thank Dr George Sturman, orthodontist in Hartford, CT, Dr Andrew Poole, Director of the University of Connecticut Craniofacial Clinic, and Dr Karlind Mollar, Director of the Cleft Palate Clinic at the University of Minnesota, for access to patient records and for their kind assistance in this project. I wish to thank Dr Frank Nichols at the University of Connecticut Health Center for his help with the statistical analysis.

References I. Shprintzen RJ, Siegel-Sadewitz VL, Amato J, et al: Anom-

alies associated with cleft lip, cleft palate, or both. Am J Med Genet 20:585, 1985 2. Fraser FC: The genetics of cleft lip and cleft palate. Am J Hum Genet 22:336, 1970 3. Pashayan HML: What else to look for in a child with a cleft of the lip and/or palate. Cleft Palate J 20:54, 1983 4. Rollnick BR, Pruzansky S: Genetic services at a center for craniofacial anomalies. Cleft Palate J 18:304, 1981

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5. Shprintzen RJ, Siegel-Sadewitz VL. Amato J. et al: Retrospective diagnoses of previously missed syndromic disorders among 1.000 patients with cleft lip, cleft palate, or both. Birth Defects 21:85, 1985 6. Dowers EJ, Mayro RF, Whitaker LA, et al: General body growth in children with clefts of the lip, palate. and craniofacial structure. Scand J Plast Reconstr Surg 21:7. 1987 7. Minaba T: Studies on growth and development of the facial skeleton and abnormality of cervical vertebrae in cleft lip and palate patients. Tokyo Dent Coli Soc J 72:1, 1972 8. Sandham A: Cervical vertebral anomalies in cleft lip and palate. Cleft Palate J 23:206, 1986 9. Ross RB. Lindsay WK: The cervical vertebrae as a factor in the etiology of cleft palate . Cleft Palate J 2:273, 1965 10. Osborne GS, Pruzansky S, Koepp -Baker H: Upper cervical spine anomalies and osseous nasopharyngeal depth. J Speech Hear Res 14:14, 1971 II. Diewert VM: Craniofacial growth during human secondary palate formation and potential relevance of experimental cleft palate observations. J Craniofac Genet Dev BioI 2:267, 1986(suppl) 12. Sulik KK, Cook CS, Webster WS: Teratogens and cranio-

13. 14. 15. 16.

17. 18. 18.

facial malformations: Relationships to cell death. Development 103:213, 1988 (suppl) Cohen MM Jr: The Patient with Multiple Anomalies. New York, NY, Raven Press, 1981 Noden DM: Origins and patterning of craniofacial mesenchymal tissues. J Craniofac Genet Devel Bioi Supp12:15, 1986 Cohney BC: The association of cleft palate with the KlippelFeil syndrome. Plast Reconstr Surg 31:179, 1963 Osborne GS: The prevalence of anomalies of the upper cervical vertebrae in patients with craniofacial malformations and their effect on osseous nasopharyngeal depth. Doctoral dissertation, Chicago Center for Cranio-Facial Anomalies, University of Illinois Medical Center, 1968 Hensinger RN, Fielding JW, Hawkins RJ: Congenital anomalies of the odontoid process. Orthop Clin North Am 9:901. 1978 Truex RC, Johnson CH: Congenital anomalies of the upper cervical spine. Orthop Clin North Am 9:891, 1978 Bland JH: Congenital anomalies, In Bland JH (ed): Disorders of the Cervical Spine . Philadelphia, PA, Saunders, 1987, p 298

or palate.

The relationship, incidence, and distribution of cervical spine anomalies were assessed in 468 patients with cleft lip and/or palate. The patients wer...
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