Long-term results after 40 years experience with treatment of rare facial clefts: Part 1--Oblique and paramedian clefts.

BACKGROUND: Oblique and paramedian rare facial clefts impose a major reconstructive challenge and long-term assessments of the outcomes remain scarce. This study provides new details regarding surgical techniques and timing, influence of growth, and difficulties of this pathology on the long-term; a guideline for surgical treatment is given. METHODS: Twenty-nine adults with an oblique or paramedian facial cleft and surgically treated in the authors' unit between 1969 and 2009, were included. The long-term evaluation was based on series of photographs, 3D-CT's, X-rays, operation data, and was specified per facial area. RESULTS: The mean number of performed operations per patient was 10.6 (range: 1-26). Vertical dystopia is not caused by previous surgery, but by growth deficiencies of the maxilla. In all patients with vertical dystopia, its presence and severity were clear at the age of five, and it should ideally be treated shortly after that age. In mild cases grafting seems sufficient, but in more severe cases orbital translocation is necessary. Costochondral grafts showed the best long-term results in both orbital and nasal reconstructions. Major nose reconstruction is best delayed until adolescence. For an optimal final result in selected cases, correction of midface hypoplasia at adolescence is necessary. CONCLUSION: The three-dimensional underdevelopment of the midface region plays a central role in the deformities of most patients, but is complex and difficult to correct. The provided guideline should help to minimize the number of operations and ameliorate long-term results.

Long-term results after 40 years experience with treatment of rare facial clefts: Part 2--Symmetrical median clefts.

BACKGROUND: Median facial clefts are reconstructive challenges, requiring multiple operations throughout life. Long-term results are often still far from ideal and could be improved. Due to surgical intervention and diminished intrinsic growth potential, surgical results may change from initially good into a progressively disappointing outcome. If, however, the ideal timing and type of surgery are known, in combination with the intrinsic growth potential, the results can be ameliorated. A guideline for surgical treatment is given. METHODS: Twenty patients with a pure symmetrical median cleft were evaluated on intermediate and long-term surgical results. The final result was scored based on severity of the initial and the remaining facial deformities, and the need for revisional surgery. RESULTS: The long-term surgical outcome was initially good for each of the affected facial parts and the face in general, but worsened over time, especially in the zone of the nose. An adequate and stable result of hypertelorism correction was observed for both the orbital box osteotomy and medial faciotomy, even when performed at a young age. CONCLUSIONS: The intrinsic growth restriction is mainly localised in the central midface. This leads to a complex and often unpredictable growth of the maturing face. It makes it difficult to achieve perfect reconstructions. Caution with surgical interventions of the nose at a young age is required. Once the face has matured, a midface advancement and secondary nose correction should be considered for satisfactory projection. Early referral to a specialised centre is essential.

Effect of infant orthopedics on facial appearance of toddlers with complete unilateral cleft lip and palate (Dutchcleft).

OBJECTIVE: To evaluate the effect of infant orthopedics (IO) on facial appearance of 54 patients with unilateral cleft lip and palate (UCLP), aged 4 and 6 years. DESIGN: Prospective two-arm randomized controlled clinical trial in three Cleft Palate Centers in the Netherlands (Dutchcleft-trial). INTERVENTIONS: Patients were divided randomly into two groups. Half of the patients (IO+) had a plate until surgical closure of the soft palate at the age of +/- 52 weeks; the other half (IO-) received no intervention. MAIN OUTCOME MEASURES: Facial appearance at 4 and 6 years of age assessed on full face photographs and photographs showing only nose and mouth. Ratings were performed on a VAS-scale by professionals and laymen. RESULTS: At 4 years of age the full face pictures of IO+ children were scored to be more attractive than those of IO- children. However, this difference had disappeared at 6 years of age. At the age of 6, only professionals saw a significant difference on nasolabial photographs between IO+ and IO-. Regression analysis showed a minor effect of occlusion, lip revision, or type of nose reconstruction on the esthetic results. CONCLUSIONS: IO had a positive effect on full facial appearance of UCLP children at the age of 4 years, but at the age of 6, only professionals saw a positive effect of IO on the nasolabial photographs. This is irrelevant for UCLP patients since they deal with laymen in their daily life.

Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors.

Patients with syndromic craniosynostosis are at risk for elevated intracranial pressure because of various physiologic and anatomic abnormalities. The aims of this study were to determine the prevalence of papilledema in syndromic craniosynostosis, to evaluate the results of the treatment, and to examine the risk factors. This is a retrospective study on 84 patients with Apert, Crouzon, or Pfeiffer syndrome. Papilledema was defined as blurring of the margins of the optic disk. The association between clinical symptoms, beaten-copper pattern on skull radiograph, ventricular dilatation on computed tomography scan, and papilledema was assessed. Papilledema was present in 51% of the patients. No relation between specific clinical symptoms and papilledema was found. The significant associations were complex craniosynostosis, exorbitism, and ventricular dilatation. The prevalence of papilledema in patients with Apert, Crouzon, or Pfeiffer syndrome is high, not only before cranial decompression but also after vault expansion. Annual fundoscopy is recommended to screen for papilledema. We consider that early decompressive surgery (within the first year of age) prevents the development of papilledema and, most likely, elevated intracranial pressure.

The frontosphenoidal suture: fetal development and phenotype of its synostosis.

BACKGROUND: Isolated synostosis of the frontosphenoidal suture is very rare and difficult to diagnose. Little has been reported on the clinical presentation and fetal development of this suture. OBJECTIVE: To understand the development of the frontosphenoidal suture and the outcome of its synostosis. MATERIALS AND METHODS: We studied the normal fetal development of the frontosphenoidal suture in dry human skulls and the clinical features of four patients with isolated synostosis of the frontosphenoidal suture. RESULTS: The frontosphenoidal suture develops relatively late during the second trimester of pregnancy, which explains the mild phenotype when there is synostosis. This rare craniosynostosis results in a deformity that causes recession of the lateral part of the frontal bone and supraorbital rim, with minimal facial asymmetry. Three-dimensional CT is the best examination to confirm the diagnosis. CONCLUSION: Isolated frontosphenoidal synostosis should be considered in patients with unilateral flattening of the forehead at birth that does not improve within the first few months of life.

Aesthetic results of fronto-orbital correction in trigonocephaly.

The aesthetic results of craniofacial surgery for trigonocephaly were evaluated by a panel assessment using a scoring system based on deformities typical for this type of craniosynostosis. In this retrospective study pre-and postoperative photographs of 45 patients were scored for items typical for trigonocephaly: shape of the forehead, hypotelorism, and temporal depression. Each item was quantified as normal or absent (0 points), a mild deformity (1 point) or a severe deformity (2 points). Preoperatively, the most obvious deformity was temporal depression and this remained to be the most obvious deformity after surgery. There was a good overall correction of the presenting deformities with a decline in the mean score preoperatively from 4.49-1.13 postoperatively. There was a significant weak correlation between pre- and postoperative score only for hypotelorism. This indicates that the severity of the initial disease is not a major contributor to the final surgical result. Furthermore, surgical outcome seemed to be stable over time and was not influenced by the timing of surgery when surgery was scheduled between the ages of 6-15 months. Early craniofacial correction for trigonocephaly results in a stable, acceptable aesthetic result on which the initial deformity has little effect. The most common associated craniofacial characteristics are well- to very well-corrected when surgery is performed within the first 6-15 months. Main focus of deformity on short and long term remains the temporal depression, and thus requires extra attention during surgery.

Long-term aesthetic results of frontoorbital correction for frontal plagiocephaly.

OBJECT: Long-term aesthetic results of craniofacial surgery for frontal plagiocephaly were evaluated by two observers who used a scoring system based on deformities typical for this type of craniosynostosis. METHODS: In this retrospective study, pre- and postoperative photographs of 59 patients were scored for items typical of frontal plagiocephaly: shape of the forehead, orbital dystopia, and temporal depression. Each item was quantified as normal or absent (0 points), a mild deformity (1 point) or a severe deformity (2 points). Preoperatively, the most obvious deformity was the shape of the forehead, whereas postoperatively temporal retrusion was the main deformity. There was a good overall correction of the presenting deformities, with a decline in the mean score from 3.7 to 0.86. There was a statistically significant weak correlation between pre- and postoperative scores for orbital dystopia alone. This finding indicates that the severity of the initial disease is not a major contributor to the final result. Furthermore, the surgical outcome seemed to be stable over time and was not influenced by the timing of surgery if it took place when the children were between 6 and 15 months of age. CONCLUSIONS: Early craniofacial correction for frontal plagiocephaly results in a stable, acceptable aesthetic outcome on which the initial deformity has little effect. The most common associated craniofacial characteristics are corrected well to very well when surgery is performed within the first 6 to 15 months of life. The main focus of the deformity in both the short and long-term remains the temporal depression, and thus it requires extra attention during surgery.

Soft tissue fixation in the face with the use of a micro mitek anchor.

An alternative method for fixation of soft tissue in the face, such as the medial and lateral canthus and free flaps, and for reconstruction of the nasolabial fold is presented, using the micro Mitek Anchor. The insertion of a bone anchor requires only a limited dissection, and the point of insertion can be determined accurately. These advantages are obvious when performing a canthoplasty. Using the bone anchor to fixate a free flap to the facial skeleton is an effective way to prevent sagging of the flap as a result of gravitational forces. In contrast, the use of bone anchors in facial neurofibromatosis has not been as rewarding.

Visual loss in syndromic craniosynostosis with papilledema but without other symptoms of intracranial hypertension.

Four children with syndromic craniosynostosis (Crouzon's syndrome and Apert syndrome) developed irreversible visual loss. Apart from papilledema, there were no other clinical symptoms of intracranial hypertension. Ventriculomegaly or hydrocephalus was present in all cases. Two children were known to have obstructive sleep apnea syndrome. These cases are reported to inform specialists involved in follow-up of children with syndromic craniosynostosis that visual loss can develop suddenly without other symptoms of intracranial hypertension. To prevent visual loss, papilledema should be detected at an early stage and intervention should be instituted promptly. Therefore, periodic funduscopy should be performed in children at risk, such as children with syndromic craniosynostosis and additional hydrocephalus or obstructive sleep apnea syndrome.

Undiagnosed obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.

Children with syndromal craniofacial synostosis have a high risk for obstructive sleep apnea syndrome. Early diagnosis and treatment can relieve symptoms and morbidity. Little is known about the development and natural history of obstructive sleep apnea syndrome through life. The aim of this study was to investigate our experience of clinical history and treatment modalities concerning obstructive sleep apnea syndrome from birth until the current age in children with syndromal craniofacial synostosis. Children with one of the three syndromal craniofacial synostoses (Apert, Crouzon, or Pfeiffer) born between 1984 and 2001 were evaluated. The medical history and symptoms of obstructive sleep apnea syndrome were assessed by retrospective analysis of the medical records. The present and past complaints were explored by means of a questionnaire. Retrospective analysis of the medical records showed a suspicion for obstructive sleep apnea syndrome in 26% of the children compared with 53% in the questionnaire. The severity and presentation of obstructive sleep apnea syndrome were not related to the age of the child. Obstructive sleep apnea syndrome symptoms occurred in almost half of the children during colds. Several symptoms were significantly more common in children with a high suspicion for obstructive sleep apnea syndrome. Treatment modalities consisted of adenotonsillectomies, continuous positive airway pressure, and Le Fort III surgery. Use of a standard questionnaire showed that the suspicion for obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis is much higher than reported in the medical records. Regular screening for obstructive sleep apnea syndrome with a standard questionnaire could be of additional value for the detection of obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.

Crouzon syndrome: phenotypic signs and symptoms of the postnatally expressed subtype.

In a retrospective study, the characteristics of a group of patients (n = 9) with a postnatally expressed Crouzon syndrome were described. Although they do not always display the physical signs of craniosynostosis, such patients are highly at risk of developing symptoms secondary to multiple suture synostosis. By reviewing the hospital files, radiographs, and three-dimensional computed tomography scans of these patients, it was possible to describe the pattern of suture obliteration chronologically. Furthermore, certain phenotypic signs and symptoms such as skull shape and development of digital impressions, a bulge at the bregma, and intracranial hypertension were inventoried as well as patients' genotypes. Interestingly, ossification started at the lambdoid sutures in at least four patients and most likely in three additional ones. The coronal sutures were the last to ossify in at least three of the patients. Various skull shapes were encountered. Furthermore, all nine patients developed digital impressions, starting occipitally in eight of them. Seven patients developed a bulge at the bregma, and four of them exhibited intracranial hypertension. The genotype varied in our patients. To recognize patients with postnatal Crouzon syndrome as soon as possible, special attention must be paid to 1) occipital development of digital impressions and/or ossification of sutures, 2) development of a prominent bregma, 3) development of intracranial hypertension, and/or 4) progressive characteristic "crouzonoid" features. Such patients can be considered as representing a subtype of Crouzon syndrome. To prevent or treat intracranial hypertension and/or loss of vision, surgical intervention should be performed at the onset of progressive craniosynostosis between 1 and 2 years of age.

Masticatory muscle right-left differences in controls and hemifacial microsomia patients.

One aim of this study was to assess right-left differences in the volume of masticatory muscles in controls so as to be able to distinguish between normal variations and pathological differences. The other aim was to compare the masticatory muscle volume of the nonaffected side of hemifacial microsomia patients with the smaller side of controls so as to test the compensation hypothesis. The study group consisted of 39 children with hemifacial microsomia and the control group of 52 children. Computed tomography scans were made using a Philips Tomoscan 350 and a Pro Speed S Fast Spiral General Electric scanner. The normal right-left differences in volume of the masticatory muscle of the controls, calculated as a percentage of the total, demonstrated small mean differences of 2.57% to 2.88% (SD:1.98-2.74). For hemifacial microsomia patients, the relative difference was about 10 times the difference for controls. For controls, the averages of the right-left differences (%) were all below the generally accepted SEM of 4%. Testing the compensation hypothesis of all effects, only the age effect was multivariately significant (P < 0.001). No overcompensation of the masticatory muscles of the nonaffected side of hemifacial microsomia patients could be demonstrated.

Longitudinal results of mandibular distraction osteogenesis in hemifacial microsomia.

The aim of this study was to evaluate mandibular distraction therapy by three-dimensional (3-D) computed tomography (CT) imaging so as to be able to improve the treatment results. The study group consisted of eight children (3 male and 5 female) with hemifacial microsomia. For each child, CT scans of the head were available (Pro Speed S Fast Spiral scanner; General Electric). Longitudinal measurements of the mandible, bony and soft tissue 3-D reconstructions, and masticatory muscles were demonstrated. Three-dimensional CT scans provide important data concerning the results of mandibular distraction therapy and should be used in treatment evaluation. In some patients and for some muscles only, a small increase in the volume of the affected side of the masticatory muscles in comparison to the normal side was found 3 years after mandibular distraction. In around 50% of the cases, there seems to be a relapse occurring 1 year after distraction osteogenesis, and this relapse has a progressive character when seen 3 years after distraction osteogenesis in comparison to 15 weeks after distraction osteogenesis.