Does different cranial suture synostosis influence orbit volume and morphology in Apert syndrome?

This study was performed to compare the orbital and peri-orbital morphological variations in Apert syndrome patients with different cranial vault suture synostosis, so as to provide an anatomic basis for individualized surgical planning. Computed tomography scans of 57 unoperated Apert syndrome patients and 59 controls were subgrouped as follows: type I, bilateral coronal synostosis; type II, pansynostosis; type III, perpendicular combinations of cranial vault suture synostoses. Orbit bony cavity volume was significantly reduced in type I and type II, by 19% (P < 0.001) and 24% (P < 0.001), respectively. However, the reduction of orbital cavity volume in type III did not reach statistical significance. Globe volume projection beyond the orbital rim, however, increased by 76% (P < 0.001) in type III, versus an increase of 54% (P < 0.001) in type I and 53% (P < 0.001) in type II, due to different ethmoid and sphenoid bone malformations. Maxillary bone volume was only significantly reduced in type I bicoronal synostosis (by 24%, P = 0.048). Both type I and type II developed relatively less zygoma and sphenoid bone volume. Different cranial vault suture synostoses have varied influence on peri-orbital development in Apert syndrome. Instead of mitigating the abnormalities resulting from bicoronal synostosis in type I, additional midline suture synostosis worsens the exorbitism due to a more misshaped ethmoid.

Distinguishing craniomorphometric characteristics and severity in metopic synostosis patients.

The decision about which metopic synostosis patients should undergo surgery remains controversial. Multiple measures for radiographic severity have been developed in order to determine the optimal criteria for treatment. The aim of this study was to perform an extensive craniomorphometric analysis of patients who underwent surgery for metopic synostosis to validate and compare the various severity scales developed for this non-syndromic craniosynostosis. A comparative morphometric analysis was performed using computed tomography scans of preoperative metopic synostosis patients (n=167) and normal controls (n=44). Measurements included previous and newly developed metopic severity indices. Volumetric and area analyses were used to determine the degree of anterior cranial area and potential volume restrictions. Of the severity indices measured, the frontal angle, endocranial bifrontal angle (EBF), adjusted EBF (aEBF), anterior cranial fossa angle, horizontal cone angle, and bitemporal/biparietal distance ratio were significantly different in the metopic subjects relative to controls overall. However, metopic index, orbital rim angle, foramen ovale distance, and cranial volume exhibited no significant difference from controls. Only the frontal angle and aEBF correlated with the changes in anterior cranial dimensions observed in metopic synostosis. In conclusion, the frontal angle and aEBF provide the most accurate measures of severity in metopic synostosis.

Growth patterns of the airway in Crouzon syndrome patients with different types of cranial vault suture synostosis.

The severity of obstructive respiratory difficulty varies among affected Crouzon syndrome patients. The aim of this study was to investigate the correlation between the restricted airway volume in Crouzon syndrome and the associated type of cranial vault suture synostosis. Computed tomography scans of 68 unoperated Crouzon syndrome patients and 89 control subjects were subgrouped into four types: type I, bilateral coronal synostosis; type II, sagittal synostosis; type III, pansynostosis; type IV, perpendicular combinations of synostoses. Measurements were made using Mimics software. Of type I Crouzon patients, 42% had a restricted nasal airway (P=0.002), while the pharyngeal airway volume was not significantly reduced. Type II Crouzon patients grew normal segmental airway volumes. Crouzon patients of type III developed simultaneously reduced nasal and pharyngeal airway volumes in infancy, by 38% (P=0.034) and 51% (P=0.014), respectively. However, the nasal airway achieved a normal volume by 2 years of age without any intervention, while the pharyngeal airway remained significantly reduced up to 6 years of age, by 42% (P=0.013), compared to controls. Type IV Crouzon patients developed a reduced nasal airway volume (32%, P=0.048) and a non-significant restricted pharyngeal airway (18%, P=0.325). Airway compromise in Crouzon syndrome is variable when associated with different craniosynostosis fusion patterns. Type II (sagittal synostosis) Crouzon patients grew a normal nasopharyngeal airway volume. Those with types I (bicoronal synostosis) and IV (perpendicular synostoses) had significantly restricted nasal airways and a tendency towards a reduced pharyngeal volume. Type III (pansynostosis) Crouzon infants had the worst restriction of both airways, although there was some improvement with age.

Nasopharyngeal airway and subcranial space analysis in Pfeiffer syndrome.

Tracheotomy in infancy helps patients with Pfeiffer syndrome to survive by preventing respiratory crisis, but difficulty in decannulation may consequently be a challenge. This study has investigated the regional abnormalities of the nasopharyngeal airway in children with Pfeiffer syndrome to provide an anatomical basis for the surgical treatment and decannulation of the upper airway. Seventy-two preoperative computed tomograms (CT) (Pfeiffer syndrome n=30; control n=42) were included. The airway volume, cross-sectional area, and cephalometrics were measured using Materialise software. Patients with Pfeiffer syndrome developed a 50% (p<0.001) reduction of nasal airway volume, and a 44% (p=0.003) restriction in pharyngeal airway volume. In patients with Pfeiffer syndrome the cross-sectional area at the choana was only half that of the controls (p<0.001). The posterior width of the nasal airway in patients with Pfeiffer syndrome was shortened by 13% (p=0.003), and the height reduced by 21% (p<0.001). The cross-sectional areas at the condylion and gonion levels, which indicate the calibre of the pharyngeal airway at the entrance and midsection, were reduced by 67% (p<0.001) and 47% (p<0.001), respectively, when compared with the controls. The volume of the nasal airway in patients with Pfeiffer syndrome was significantly restricted in length, height, and width, and by choanal stenosis in all cases in this cohort. The reduced anteroposterior length of the nasal airway contributed to the shortened maxilla more than the anteroposterior position. The limited height and width of the nasal pathway was the result of a hypoplastic sphenoid. Restricted mediolateral and anteroposterior dimensions were evident across the entire course of the pharyngeal airway. Mediolateral maxillary expansion in addition to maxillomandibular advancement is therefore likely to benefit these patients.

Racial disparity in orbital morphology and spatial relations in unoperated Crouzon patients.

The altered orbital morphology of patients with Crouzon syndrome could have an impact on the planning of treatment in diverse populations, in spite of the confounding influences of different cranial suture synostosis. This study attempted to explore the differences in orbital characteristics between Asian, Caucasian patients with Crouzon syndrome, associated pansynostosis. Eighty-six preoperative computed tomograms (CT) were included (Asian Crouzon syndrome: n=10; Asian controls: n=24; Caucasian Crouzon syndrome: n=19; Caucasian controls: n=33) and measured using Mimics software (Materialise). Unique cephalometric measurements related to orbital morphology and position were designed. Crouzon syndrome and race both have interactive effects on protrusion of the globe (p=0.009) and medial horizontal angle (p=0.012) in the assessment of orbital morphology. They also interact in the width of the ethmoid sinus (p=0.009) and influence bilateral orbital relations. The anteroposterior orbital roof in Caucasian patients with Crouzon syndrome was shortened by 4.09mm (p=0.002) compared with Caucasian controls. However, in Asian patients this dimension developed normally. The anteroposterior orbital floor was significantly reduced to a similar extent in both Asian and Caucasian Crouzon patients (both p<0.001). The visual axes in Caucasian patients with Crouzon showed more inferior rotation, by 4.38° (p=0.031) than they did in Caucasian controls, but did not achieve a statistically significant difference in other comparisons. The effect of Crouzon syndrome on orbital malformation and placement is influenced by race, especially structures related to the ethmoid sinus. Asian patients need greater infraorbital advancement for better correction of orbital proptosis and aesthetic benefits, but may require less fronto-orbital advancement than Caucasian patients.

Racial disparity of Crouzon syndrome in maxilla and mandible.

The racial disparity of facial features in craniosynostosis patients is not fully understood. The aim of this study was to explore the difference in maxillary and mandibular morphology and spatial position in Asian and Caucasian Crouzon syndrome patients. Ninety-one computed tomography scans were included (12 Asian Crouzon syndrome patients, 22 Asian controls; 16 Caucasian Crouzon syndrome patients, 41 Caucasian controls) and measured using Materialise software. The maxillary and mandibular volumes of Asian patients were both reduced by 19% (P=0.102 and P=0.187), and those of Caucasian patients were reduced by 15% (P=0.142) and 14% (P=0.211) when compared to the respective race-specific controls. Maxilla length of Asian patients was reduced by 6.36mm (14%, P=0.003), while the reduction in Caucasian patients was 4.88mm (10%, P=0.038). ANS was retracted 11.99mm (P<0.001) in Asian patients and 11.54mm (P<0.001) in Caucasian patients. The ANB angle was narrowed by 13.17° (P<0.001) in Asian patients compared to Asian controls, and by 7.02° (P<0.001) in Caucasian patients compared to Caucasian controls. The retrusive midface profiles of Asian and Caucasian Crouzon syndrome look similar; both result from the combined effect of hypoplastic size and backward displacement. However, the insufficiency was found to be more a failure of the anteroposterior maxillary length in Asian patients, and more due to posterior maxillary positioning in Caucasian patients. Therefore, prognathism in Crouzon syndrome patients is more likely caused by displacement rather than elongation of mandibular length in both races. Crouzon syndrome results in the same extent of overall volume deficiency of the maxilla and mandible in these races.

Orbit, zygoma, and maxilla growth patterns in Crouzon syndrome.

The facial malformations of Crouzon syndrome involve the entire cranio-orbito-zygomatic region. The detailed sequence of changes in orbit, zygoma, and maxilla over time, the mutual influence among these three anatomical structures, and their relationship with the cranial base were studied to determine the sequence and timing of deformity. Preoperative CT scans of 36 patients with Crouzon syndrome (mean age 10.84±14.70years; 14 male, 22 female) and CT scans of 54 control subjects (mean age 8.53±13.22years; 29 male, 25 female) were divided into five subgroups by age: 0-6 months, 6 months-2 years, 2-6 years, 6-18 years, and 18-62 years. Craniofacial morphometric cephalometrics were analyzed using Materialise software. Crouzon orbit anteroposterior length was shorter before 6 months (P=0.021) and remained shorter into adulthood (P<0.001). Globe projection was greater across all age subgroups (P<0.001), reaching a peak at 6 months to 2 years (P<0.001). The increased medial orbital width was the most remarkable and persistent secondary deformity (P<0.001). The zygoma anterior protrusion was retruded before 6 months of age (P<0.001), but then improved gradually. The width of maxilla was greater by 24% in the Crouzon cohort (P<0.001), with a difference of 16% before 6 months (P=0.024), and was developed earlier than the shortened anteroposterior length. Crouzon high and shallow orbital walls are distinctive. Maxillary widening developed before the malformation of sphenoid. The anteroposterior position of zygoma is likely a principal deformity, rather than a reflection of the intrinsic shape of the bone. Level of Evidence: II.

Anterior convex lateral orbital wall: distinctive morphology in Apert syndrome.

Bony malformations of the orbit and alterations to the soft tissue in Apert syndrome contribute to ophthalmic dysfunction. Recognised structural malformation of the sphenoid and ethmoid sinuses, together with corresponding deformities in the anterior and middle cranial base, are characteristic. Our aim was to explore the underlying structural components of disfigurement and the consequent development of the orbit in patients with Apert syndrome over time by studying 18 preoperative computed tomographic (CT) scans of affected patients and 36 scans from controls. Cephalometric measurements related to the orbit were collected, and analysed with Materialise software. The patients with Apert syndrome had larger than normal external orbital horizontal angles between the ages of 6 months and 2 years. The inside horizontal angle was narrower at 16.36° before 6 months, and continued to decrease into adulthood. The ethmoid and sphenoid side angles in affected patients consistently increased, starting at 7.93% and 14.68% of the external horizontal angle, respectively, during the first 6 months of age, and becoming 20.55% and 11.69%, respectively, in adulthood. In unaffected patients, both angles were less than 3% of the external horizontal angle overall. The orbital vertical angle also changed synchronously, with increasingly wide lateral orbits and shortened anteroposterior orbits. The anterior protrusion of the lateral orbital wall resulted from superior and posterior rotation of a curved, greater wing of the sphenoid, while the widened median orbital wall was caused by the widened ethmoid sinus. These resulted in bony deformities of the orbit, which predisposed to the visual impairments of Apert syndrome.

Calcifilaxis / Calciphylaxis

Resumen La calcifilaxis es una enfermedad poco frecuente, aunque presenta una elevada tasa de mortalidad debido sobre todo a complicaciones como sepsis o gangrena. Generalmente se asocia a insuficiencia renal severa. Se define como la calcificación de la capa media de vasos de pequeño y mediano tamaño de la dermis y tejido celular subcutáneo. Clínicamente se manifiesta como un síndrome de livedoracemosa que progresa a púrpura retiforme y necrosis cutánea. La primera línea de tratamiento es el tiosulfato sódico.

Abstract Calciphylaxis is a rare disease, although it has a high mortality rate due mainly to complications such as sepsis or gangrene. It is usually associated with severe renal failure. It is defined as the calcification of the middle layer of small and medium-sized vessels of the dermis and subcutaneous cellular tissue. Clinically it manifests as a livedoracemosa syndrome that progresses to retinal purpura and cutaneous necrosis. The first line of treatment is sodium thiosulfate.