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PubMed1994

Crouzon syndrome: cephalometric analysis and evaluation of pathogenesis.

Crouzon syndrome is a craniofaciostenosis characterized by brachycephaly, ocular proptosis, and maxillary retrusion. The hypothesis has been forwarded that an alteration in anterior cranial base synchondrosis activity is responsible for the skeleton abnormalities which are associated with this disorder. The present work was aimed at assessing this pathogenetic hypothesis. Cephalometry was used as the analysis method and care was taken in determining the three-dimensional measurements of some functional spaces (e.g., orbit, rhinopharynx, and nasal cavity). The results indicate that in Crouzon syndrome the craniofacial alterations depend not only on reduced synchondrosis activity of the anterior cranial base, but also of the posterior cranial base.

Adolescent↗

PubMed1995

Velopharyngeal incompetence and persistent hypernasality after adenoidectomy in children without palatal defect.

Persistent hypernasal speech after adenoidectomy has been reported in children with palatal deficiency. Hypernasality after adenoidectomy can also occur in children with normal palatal function. The aim of the present study was to identify the cause of velopharyngeal incompetence and hypernasality after adenoidectomy in children who did not have palatal defect as a predisposing factor. Sixteen children who developed hypernasality after adenoidectomy were included in the present study. Standard lateral cephalometry, videofluoroscopy, and nasopharyngoscopy were performed to visualize the velopharynx and its function during speech. The results showed that enlarged tonsils and prominent remaining adenoid tissue on the posterior pharyngeal wall were the causes of hypernasality in these children. Incomplete removal of the adenoid tissue should be avoided and enlarged tonsils should be removed at the time of adenoidectomy to prevent the risk for postoperative hypernasality.

Adenoidectomy↗

PubMed1997

Craniofacial morphology in patients with Kallmann's syndrome with and without cleft lip and palate.

OBJECTIVE: Kallmann's syndrome is characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. The principal endocrine defect of hypogonadotropic hypogonadism is a failure to secrete luteinizing hormone-releasing hormone (LHRH), resulting in underdevelopment of the pituitary gonadotropes and an inability to synthesize and release luteinizing hormone and follicle-stimulating hormone. The purpose of the present investigation was to describe the dentition and the craniofacial morphology in patients diagnosed with Kallmann's syndrome. DESIGN: The sample consisted of 11 patients, 2 of whom also had bilateral cleft lip and palate. Radiographic investigations, including cephalometry, were performed. Comparisons were made to normal individuals and to cleft lip individuals without Kallmann's syndrome. RESULTS: Dentition: tooth agenesis occurred more frequently in patients with Kallmann's syndrome. Craniofacial morphology: Increased mandibular inclination and mandibular angulation were seen in Kallmann patients. When clefting also occurred, extreme retrognathism of both maxilla and mandible was seen, a deviation which seemingly worsened during growth. The anterior cranial base and the sphenoid bone showed an altered morphology in one of the patients with Kallman's syndrome. CONCLUSIONS: An early diagnosis of Kallmann's syndrome is very important because the prognosis for endocrine treatment thereby improves, and therefore, it is recommended that the sense of smell be evaluated in patients with the craniofacial morphology described.

Adolescent↗

PubMed1997

Examination of craniofacial morphology in 10-month to 5-year-old children with cleft lip and palate.

OBJECTIVE: The purpose of this study was to assess craniofacial growth in children from 10 months to 5 years of age with cleft lip and/or palate and to develop a systematic method of cephalometric measurements. DESIGN: A case-control study. SETTING: Craniofacial unit of a teaching hospital for children. PATIENTS: A consecutive series of the first 22 patients with cleft lip and/or palate who underwent early reconstructive treatment [isolated cleft lip (CL) 6; isolated cleft palate (CP) 7; unilateral cleft lip and palate (UCLP) 7; and bilateral complete cleft lip and palate (BCLP) 2] (mean age, 27.9 months) and 22 age- and sex-matched noncleft children. INTERVENTIONS: Lateral cephalometric headfilms of the children were taken using a pediatric cephalostat. MAIN OUTCOME MEASURES: Cephalometric landmarks were measured according to Ricketts cephalometry. RESULTS: As compared with controls, CL patients had a lingual position and inclination of maxillary and mandibular incisors, an increase of interincisal angle and a decrease of incisor overjet, an increase in facial convexity, and a decrease in facial depth and mandible body length. In CP patients, palatal plane inclination and mandible arch were significantly reduced. In UCLP patients, there was a decrease in molar relation and incisor overbite, an increase in interincisal angle, reduced position and inclination of maxillary incisors and inclination of mandibular incisors, an increase in facial convexity, and lower facial height. CONCLUSIONS: Based on the absence of midface growth reduction, these short-term results suggest a tendency toward normal maxillomandibular growth.

Case-Control Studies↗

PubMed1999

A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.

OBJECTIVE: To determine whether specific mutations within the fibroblast growth factor receptor 2 (FGFR2) gene that are associated with Crouzon syndrome can be present in an individual who had been assumed to be "clinically normal." METHODS: Most mutations responsible for Crouzon syndrome occur in exons IIIa (U) or IIIc (B) of the FGFR2 gene, which facilitates allelotyping using polymerase chain reaction (PCR)-mediated mutation analysis. Once a specific mutation was identified in the index case, remaining affected family members and "clinically normal" first-degree relatives were analyzed in order to correlate genotype with phenotype. RESULTS: A novel missense mutation--a G to T transversion--involving the first base of codon 362 was identified in all Crouzon syndrome-affected family members and in one "clinically normal"-appearing parent following DNA sequencing of exon B of the FGFR2 gene and specific BstNI restriction fragment length polymorphism. Pattern profile analysis demonstrated a consistent collection of abnormal cephalometric measurements in the Crouzon-affected family members and, to a lesser degree, in the "clinically normal" parent. CONCLUSION: We have identified a novel missense mutation in the FGFR2 gene that predicts an Ala362Ser substitution shared by all family members affected by Crouzon syndrome and by a "clinically normal"-appearing father. These data support nonpenetrance of Crouzon syndrome when the diagnosis is based on clear clinical findings. Only through cephalometry was there an indication of minimal expression of Crouzon syndrome in the "clinically normal"-appearing father.

Cephalometry↗

PubMed2000

Craniofacial comparisons in 22-month-old lip-operated children with unilateral complete cleft lip and palate and unilateral incomplete cleft lip.

OBJECTIVE: The objective of the study was to analyze the craniofacial morphology in infants with unilateral complete cleft lip and palate (UCCLP) in which the lip and the anterior part of the palate had been surgically closed at 2 months of age and to compare the morphology with that of a control group with unilateral incomplete cleft lip (UICL) in which the lip had also been surgically closed at 2 months of age. DESIGN: The sample consisted of a total of 108 cleft children all fulfilling the entry criteria, besides diagnosis, as follows: The child was of Danish origin; the age of the child was between 650 and 750 days (approximately 22 months) at the time of examination; the child was healthy except for its single cleft malformation; the surgical procedure in each group had been performed at about 2 months of age by the same surgeon. The surgical methods used were a Tennison procedure (UICL group) and a Tennison procedure supplemented by palatovomer plasty (UCCLP group). METHODS: The method of investigation was infant cephalometry in the lateral, frontal, and axial projections. Linear, angular, and area variables describing the craniofacial morphology were calculated and supplemented by mean plots from the cephalometric projections in the two groups. RESULTS AND CONCLUSIONS: Statistical analysis based on Student's t test showed that the facial morphology in the 22-month-old UCCLP group differed significantly from that of the UICL group. The most pronounced differences were found in the maxillary complex and the mandible. The deviations observed in the UCCLP group at 22 months of age were similar to those previously observed at 2 months of age. However, several of the dysmorphic traits had become less pronounced; some had remained the same; and a few had become worse with time.

Anthropometry↗

PubMed2002

Early craniofacial morphology and growth in children with unoperated isolated cleft palate.

OBJECTIVE: Analysis of craniofacial morphology and growth in children with untreated isolated cleft palate (ICP) (cleft of the secondary palate only) at 2 and 22 months of age and comparison of the morphology and growth to that of a control group with unilateral incomplete cleft lip (UICL). MATERIAL AND METHODS: A total of 98 cleft children (53 with ICP and 45 with UICL) drawn from a larger group representing all Danish children with cleft born in the period 1976 to 1981 were included in the study. Craniofacial morphology and growth were analyzed using three-projection infant cephalometry. RESULTS: The ICP group differed significantly from the UICL group. The most striking findings in the ICP group were: short maxilla; reduced posterior maxillary height; increased posterior maxillary width (in the 2-month-old); short mandible; reduced posterior height of the mandible; bimaxillary retrognathia; and reduced pharyngeal depth, height, and area. The facial growth pattern was fairly similar in the two groups except for a somewhat more vertical growth direction in the ICP group. CONCLUSION: The facial morphology in ICP children differs significantly from that of children with UICL of the same age. The differences in facial morphology can be ascribed to the difference in the primary anomaly in the ICP group. The facial growth pattern was fairly similar in the ICP and UICL group; however, a somewhat more vertical growth direction was observed in the ICP group.

Body Height↗

PubMed2003

Early craniofacial morphology and growth in children with nonsyndromic Robin Sequence.

PURPOSE: Craniofacial morphology and growth comparisons in children with untreated nonsyndromic Robin Sequence (RS) and a control group with unilateral incomplete cleft lip (UICL) in which the lip was surgically closed at 2 months of age. MATERIAL: The 52 children (7 RS and 45 UICL) included in the study were drawn from a group representing all Danish cleft children born 1976 through 1981. The ages of the children were 2 and 22 months at the time of examination 1 and 2, respectively. METHOD: The method of investigation was three-projection cephalometry. Craniofacial morphology was analyzed by means of linear, angular, and area variables. Growth at a specific anatomical location in a patient was defined as the displacement vector from the coordinate of the corresponding landmark at examination 1 to its coordinate at examination 2. RESULTS: The most striking findings in the RS group were markedly increased posterior maxillary width, increased width of the nasal cavity, short maxilla with reduced posterior height, short mandible, bimaxillary retrognathia, and severe reduction in size of the pharyngeal airway. The amount of facial growth was similar in the two groups; however, a tendency toward a more vertical growth direction was observed in the RS group. CONCLUSION: Facial morphology in children with RS differed significantly from that of children with UICL at both 2 and 22 months of age. The magnitude of facial growth was similar in the two groups, whereas a tendency toward a more vertical facial growth direction was observed in the RS group.

Cephalometry↗

PubMed2003

Craniofacial morphology and growth comparisons in children with Robin Sequence, isolated cleft palate, and unilateral complete cleft lip and palate.

OBJECTIVE: Comparison of early craniofacial morphology and growth in children with nonsyndromic Robin Sequence (RS), isolated cleft palate (ICP), and unilateral complete cleft lip and palate (UCCLP). SUBJECTS: One hundred eight children with cleft: 7 with RS, 53 with ICP, and 48 with UCCLP were included in the study. The children were drawn from the group of all Danish children with cleft born 1976 through 1981. METHOD: Three-projection infant cephalometry. RESULTS: The craniofacial morphology in the RS, ICP, and UCCLP groups had some common characteristics: a wide maxilla with decreased length and posterior height, wide nasal cavity, short mandible, bimaxillary retrognathia, and reduced pharyngeal airway. The shortest mandible was found in RS followed by ICP and UCCLP; the pharyngeal airway was reduced in RS and ICP, compared with UCCLP; and the maxillary complex and nasal cavity were wider in UCCLP than in the other groups. The amount of facial growth in all three groups was similar; however, the direction was more vertical in UCCLP than in RS and ICP. CONCLUSION: Except for a shorter RS mandible, the facial morphology of infants with RS and ICP was similar, as was the amount of facial growth and the growth pattern. The differences in facial morphology can be ascribed to the difference in the primary anomaly. The amount of facial growth was similar in the three groups; however, the growth pattern showed a more vertical direction in UCCLP than in RS and ICP. It is hypothesized that the mandibular retrognathia in RS represents the outer end of that of the ICP distribution.

Analysis of Variance↗

PubMed1985

Assessment of gestational age by ultrasonic measurement of the femur length.

The effectiveness of ultrasonic femur length measurement from 12 to 40 week's gestation, as a means of assessing fetal age, was tested and compared with that of biparietal cephalometry. The femur length and biparietal diameter (BPD) were obtained from 471 measurements, from pregnant women with confirmed datings, using real-time scanning with a 3,5 mHz transducer frequency. Using a freeze frame and electronic calipers, the mean value of three consecutive measurements of the femur, when visualized with its characteristic appearance, was recorded. Linear regression analysis with the correlation coefficient of the femur growth-curve (r = 0.989, p less than 0.001) and that of the BPD (r = 0.985, p less than 0.001) showed that the former is as good as the latter. The femur growth-curve from 12 to 40 week's gestation with a mean +/- 2 SD was constructed. Estimation of fetal age by femur length measurement was compared with that assessed by the BPD in a further 54 women. A close correlation was found (r = 0.993, p less than 0.001). Measurement of the fetal femur appears to be a reliable method for assessing gestational age, which can compensate for the limitations of the BPD method.

Cephalometry↗

PubMed1977

Proprotionate linear measurements in radiographic cephalometric assessments. A methodological study.

Craniofacial structures were studied by radiographic cephalometry in 10 boys and 10 girls at 9-14 years and 13 years later. The linear distances were measured in mm as well as with indices with the sella-nasion distance as denominator. The index measurements proved to be dependent on age to a rather limited extent. This held true for index measurements referring to skeletal points as well as soft-tissue points.

Adolescent↗

PubMedDate not supplied

Experimental nasal septoplasty; influence on nasomaxillary development. A roentgen cephalometric study in growing domestic cats.

The fear of destroying an anticipated growth centre has, with time, induced the postponement of nasal septal operations until adult age. Underdevelopment of the nose and middle face is otherwise believed to be the long-term result. In order to test this hypothesis, subepichondrial surgery was performed in growing domestic cats. The technique resembled modern corrective interventions for septum deviations in humans. Based on cephalometry, i.e. measurements on lateral skull radiograms, no significant influence could be found regarding ultimate nasal or mid-facial dimensions. The findings tentatively intimate that septal surgery might be carried out at a much earlier age than hitherto assumed.

Age Factors↗

PubMed1981

Growth of the middle face in experimental early bony fusion of the vomeropremaxillary, vomeromaxillary and mid-palatal sutural system. A roentgencephalometric study in the domestic cat.

In 23 domestic cats, 21/2 months of age, the junction between the nasal septum/vomer and the hard palate was extirpated along with the full extent of the mid-palatal suture. Under the cover of undisrupted oral- and nasal mucoperiosteum the resulting osseous defect was then left for healing. In seven animals histology showed that the vomer, the premaxilla and maxilla had formed one continuous osseous entity with no sign of the sutures ordinarily separating these bones. Neither could a septo-premaxillary ligament be found. By cephalometry, the ensuing mid-facial growth in these cats was compared to that of seven unoperated controls which possessed an unobliterated vomero-mid-palatal suture system. The animals were followed until 13 months of age, i.e. till after cessation of general growth. The expansion of the palate appeared, in the operated cats, to be significantly reduced, indicating that growth in the mid-palatal suture is essential for development in the transversal direction. Concerning vertical and antero-posterior mid-facial growth, however, no disparities were found. Consequently it can be deduced that, at least after the early postnatal period, growth in the basal part of the nasal septum/vomer is of no concern for mid-facial development in the sagittal plane.

Animals↗

PubMed1983

Cephalometric radiography and computed tomography in infants undergoing major craniofacial surgery--a comparison.

Craniofacial growth after surgery in children is not completely understood. We have therefore formed a programme for pre- and postoperative studies with both roentgencephalometric- and computed tomographic investigations. This regimen results in overlapping information. Thus, an assessment of the advantages and disadvantages of the two methods was made and exemplified in four patients. In our experience both cephalometry and CT are essential for the diagnosis, surgical planning and follow-up of surgically treated children with craniofacial anomalies. To minimize the radiation doses and the diagnostic procedures which in these cases often includes general anesthesia, patients with isolated, asymmetrical conditions such as plagiocephaly, might be followed with CT only, since roentgencephalometry can not add much information.

Cephalometry↗

PubMed1994

Effects of mandibular growth patterns on the development and configuration of the face in patients with unilateral cleft lip and palate.

Radiographic cephalometry has been used for the assessment of the effects of mandibular rotation and of posterior growth displacement of the temporomandibular joint on the development of the face and on overjet in 43 patients with complete unilateral cleft lip and palate between the ages of 10 and 15 years. Rotation acted mainly on vertical facial measurements and on the position of the lower jaw. The degree of posterior displacement of the temporomandibular joint exerted an influence on the position of the mandible, on the difference between the functional length of the upper and lower jaw, and on the occlusion of incisors. The direction of growth of the mandible as a whole represented the result of a combination of changes produced by the rotation of the jaw and by the degree of posterior displacement of the temporomandibular joint. The most favourable conditions for development were a combination of the neutral type of rotation with a more pronounced posterior displacement of the temporomandibular joint.

Adolescent↗

PubMed1979

Craniofacial growth following experimental craniosynostosis and craniectomy in rabbits.

Premature fusion of the coronal suture was produced in 9-day-old rabbits by immobilization of the suture area bilaterally with methyl-cyanoacrylate adhesive. The effects of suture fusion and its surgical release on suture growth and on skull morphology were evaluated by radiographic cephalometry. Immobilization resulted in significant changes in the angular dimensions in the vault toward an anteroposterior shortening. No permanent deformity was observed in the angular relationship between the cranial base and the facial skeleton. Craniectomy at 30 days, when a skull deformity had been established, resulted in rapid separation of the bones at the suture site which returned the deformed skull to a normal configuration by 90 days of age. Surgical removal of a normal suture in a control group also resulted in accelerated separation of the bones at the excised suture site, but it was less than after removal of an immobilized suture. The experimental data indicate that premature fusion of rapidly growing sutures results in consistent skull deformity. Early release of the fusion, when this is the primary abnormality, will result in spontaneous correction of the deformity.

Age Factors↗

PubMed2002

[Cephalometric analysis in patients with obstructive sleep apnea syndrome: effectiveness of measuring skeletal morphology and soft tissue dimensions].

We assessed the surgical indication in obstructive sleep apnea syndrome (OSAS) by comparing cephalometry between a responder group of uvulopalatopharyngoplasty (UPPP) and a nonresponder group. Cephalometric studies were conducted on 43 patients--42 men and one women--who required UPPP and underwent both pre- and postoperative polysomnography, and on 50 non-OSAS patients who formed the control group. Angles and distances were measured based on the Downs-Northwestern method as detailed in the reference cited. The comparison between the OSAS and control groups indicated anterior displacement of the maxilla, and anteroposterior discrepancies of the maxilla and the mandible in OSAS. Significant differences were seen in distance measurements for all values other than the distance from the sella to the nasion. We then compared the 3 groups--responders, nonresponders, and controls. From differences in the Y-axis angle, the Gonial angle, the ANB angle, the distance from the gonion to the menton, and the maximum thickness of the soft palate between responder and control groups, we concluded that the efficacy of UPPP is higher in OSAS patients who have several factors such as micrognathia, anteroposterior discrepancy in the maxillary and mandibular bases, and thick soft palate. We concluded that routinely conducting that cephalometric analysis would be useful for deciding on adopting UPPP.

Adult↗

PubMed1995

Family studies in patients with the sleep apnea-hypopnea syndrome.

OBJECTIVE: To determine whether familial factors affect development of the sleep apnea-hypopnea syndrome and upper airway caliber. DESIGN: A case-control study. SETTING: Tertiary, referral clinical sleep laboratory. PARTICIPANTS: 51 first-degree relatives of patients with the sleep apnea-hypopnea syndrome and 51 controls matched for age, sex, height, and weight who were drawn at random from a family practice register. To avoid studying the familial nature of obesity, only relatives of index patients with body mass indices less than 30.0 kg/m2 were recruited. MEASUREMENTS: Assessment of sleep-related symptoms; breathing, sleep, and oxygenation patterns on overnight polysomnograms; upper airway dimensions by acoustic reflection; and facial structure by lateral cephalometry. RESULTS: More relatives of patients with the sleep apnea-hypopnea syndrome reported snoring (24 relatives compared with 7 controls; P < 0.001) and daytime sleepiness (28 relatives compared with 16 controls; P = 0.01). Relatives had more apneas and hypopneas per hour (median of 13/h [95% CI, 3 to 82/h] for relatives compared with median of 4/h [CI, 0 to 53/h] for controls; P < 0.001), more arousals from sleep (30/h [CI, 11 to 87/h] for relatives compared with 17/h [CI, 4 to 59/h] for controls; P < 0.001), poorer sleep quality, and more oxygen desaturations. Relatives also had narrower upper airways with retroposed maxillae and mandibles and longer soft palates with wider uvulae. CONCLUSION: The sleep apnea-hypopnea syndrome has a strong familial component. The familial tendency may be caused by differences in facial structure.

Adult↗