Auricles Anomalies in Patients With a TCF12 Gene Mutation.

Craniostenosis is a morphological anomaly affecting about 0.5 of 1000 births and one third of the cases are of genetic origin. Among the syndromes responsible for craniostenosis, there is the Saethre-Chotzen syndrome due to a mutation of the TWIST 1 gene located on chromosome 7. This polymalformative syndrome classically includes a particular morphology of the auricles. The penetrance is variable and results in a phenotypic variability at the origin of "Saethre-Chotzen like" clinical pictures for which the TWIST 1 gene mutation is sometimes not found. Recently, the TCF 12 gene has been implicated in some of these cases. Among the multiple facial malformations, we have carefully examined the particular morphology of the auricle of these patients. The authors found several abnormalities in patients with a TCF 12 gene mutation, namely a thickened and hammered upper pole of the helix, a narrow concha without crux cymbae and a thickened lobe. These morphological features may guide the diagnosis and allow an earlier search for a TCF 12 gene mutation.

Morphological and surgical results in sagittal synostosis: early craniectomy versus later cranioplasty.

BACKGROUND AND PURPOSE: Morphological correction is one of the main aims of surgery for sagittal synostosis (SSO). Different surgical techniques have been developed; however, few studies have compared the different surgical protocols. The morphological outcome is poorly documented, because a consensual evaluation tool is lacking. MATERIAL AND METHODS: We performed a prospective study of children operated for SSO in our institution. Children were operated whenever possible at 4 months for craniectomy; by default, children underwent cranioplasty at or after 9 months. The morphological outcome of all children was evaluated using traditional craniometry with head circumference (HC) and the cephalic index (CI), and with the Rotterdam scaphocephaly morphology score (RSMS), a total of semi-quantitative assessments of morphological hallmarks. RESULTS: Craniectomy was significantly associated with a shorter operation time and hospital stay, and a better impact on HC and CI measurements, compared with cranioplasty. The RSMS was markedly improved after surgery in both groups; however, we found no significant difference in improvement between the two groups. Although the transfusion rate and the prevalence of developmental delay were lower in the craniectomy group, and reoperations for calvarial lacunae or complex craniosynostosis occurred only this group, these differences were not significant. CONCLUSIONS: Our results support early surgery with craniectomy whenever possible; however, cranioplasty at a later age is a very acceptable by-default indication. In addition to classical craniometry, morphological evaluation using the RSMS or a similar quantitative scale appears highly desirable for future studies.

Linear craniectomy for early posterior decompression in craniosynostoses: technique and results.

INTRODUCTION: Early decompressive posterior linear craniectomy (PLC) can be indicated in very young infants with complex multisuture synostosis, which often involve the lambdoid suture (LS). The literature data on the surgical technique and its results are scarce. MATERIAL AND METHODS: Based on our experience with PLC during the last 10 years, we detail our surgical technique for PLC, the possible pitfalls, and complication avoidance. RESULTS: We review seven observations, 5 girls and 2 boys, 6 of these with identified mutations, operated for PLC at a mean age of 3.19 months (6 days to 6.1 months). One patient died of unexplained cardiac arrest on postoperative day two, the others had a favorable outcome with good development and no visual loss. Three of these required additional cranioplasty at a later age, one of these with craniofacial distraction. DISCUSSION: PLC can be a salvage operation in very young patients with complex synostosis involving the LS, and with proper preparation and careful technique, allows favorable outcome. The approach must be versatile in order to anticipate further surgeries in these complex, most often syndromic cases.

Three-dimensional study of 31 cases of synostotic anterior plagiocephaly before and after surgical management the Lille protocol.

Synostotic anterior plagiocephaly is a rare pathological cranial malformation. Therapeutic options are rarely studied due to the rarity of the malformation and difficulties in diagnosis and care management. The objective of this study was to analyze the results obtained with the Lille protocol based on 62 CT-scans done before and after surgery in 31 patients. A specific analysis was designed for this work. Nine cephalometric measures enabled to evidence on each CT-Scan the corrections made on the fronto-orbital bandeau and the potential impact of surgery on the craniofacial structures. Results show that surgical symmetry of the fronto-orbital bandeau in the transversal plane, according to the symmetrical axis of the semicircular canals, allows a normalization of the skull's growth and morphogenesis for the surgically affected structures but also adjacent ones.

Fifteen years of experience with the midfacial distraction without maxillary osteotomy protocol.

PURPOSE: Midfacial distraction for facial stenosis is minimizing the communication between cranial fossa and nasal fossa caused by the Le Fort III osteotomy during frontofacial advancement procedures. There are different types of distractors, such as internal and external devices. The aim of our study is to present a series of 22 consecutive distraction cases operated without any Le Fort osteotomy with external distraction frames. We completely avoid the gap between the skull and nose, thus avoiding related complications. PATIENTS AND METHODS: Between 1997 and 2012, we operated on 22 patients presenting syndromes associating midfacial retrusion, maxillomandibular class III malocclusion and upper airway obstruction. METHODS: We perform a fronto-orbital advancement. We do not perform any maxillary osteotomy. A vertical cut in the lateral orbital wall is done towards the inferior orbital fissure and another cut on the zygomatic arch. We realise the fixation of the frame posteriorly with a folded K-wire and anteriorly with a transmaxillary pin. Aiming overcorrection, we distract on average 1 mm a day for a mean period of 26 days and with a horizontal distraction vector. RESULTS: No deaths or life-threatening complications were reported. All midfacial retrusions were corrected without relapse. The advancement ranged between 6 and 20 mm. Several complications were notified: one sphenopetrous dislocation, one ethmoidonasal dislocation, two device disassemblages and two cases of maxillary sinusitis. Some of these complications caused an incomplete distraction result. CONCLUSIONS: Compared to other techniques, this method is safe, simple and efficient. By sparing major osteotomies, it avoids severe complications.

Trigonocephaly: Lille's surgical technique.

From the early beginning, in 1977, of our experience in the treatment of trigonocephaly and with the follow-up of 263 patients, we have been convinced that it was a condition related to the skull base. It is now proved thank to the comparison between patient's CT scan and normal template (normal skull of the same age) in vestibular orientation. We used to correct this condition by a frontal reshaping and a rotation of the superior and lateral orbital rim along an oblique axis. We call that movement: "valgisation."

Unicoronal synostotic plagiocephaly: surgical correction: Lille's technique.

INTRODUCTION: For 35 years, we have a tight neuro-plastic surgical cooperation for the surgical correction and long-term systematic follow-up of 125 cases of unicoronal synostotic plagiocephaly. METHODS: We have tried to understand why some patients had kept an asymmetrical facial growth pattern in spite of a good fronto orbital correction. Analysis in vestibular orientation which was available from 1993 has demonstrated a discrepancy between the ocular and the vestibular verticality referential system. So we have designed a surgical procedure to try to fix that problem. RESULTS AND CONCLUSION: Preliminary results in 27 cases operated according to this procedure, for which we have pre- and post-CT scan demonstrate significative improvements of our results.

Non-syndromic oxycephaly and brachycephaly: a review.

BACKGROUND: Non-syndromic coronal synostoses oxycephaly and brachycephaly (NSCSOB) are rare. Their natural history, surgical management, and outcome are debated. MATERIAL AND METHODS: We reviewed the available literature on NSCSOB. In addition, we reviewed retrospectively our experience with cases of NSCSOB, managed and operated by our joint craniofacial team since 1984. Newborns underwent perifrontal craniectomy, while infants and older children underwent fronto-orbital advancement with frontoparietal remodeling. Cases with delayed onset of faciosynostosis were excluded. RESULTS: Some cases of NSCSOB present at birth or even prenatally with gross dysmorphism and severe brachycephaly; others present later in life with harmonious restriction of intracranial volume and are at risk for development and vision. Some NSCSOB evolve from initially unisutural synostoses. We treated 61 cases, operated aged 1.4 to 106.7 months, 30 with brachycephaly and 31 with oxycephaly. Twelve of these (19.7 %), had been treated initially for sagittal or unicoronal synostosis, and evolved into NSCSOB. Intracranial hypertension was present initially in 28 (45.9 %), with ophthalmological consequences in 13 (21.3 %) and mental retardation in 6 (9.6 %). No patient had hydrocephalus; only two had asymptomatic Chiari malformation. The mean postoperative follow-up was 113.6 months. At last control, 21 patients had developmental delay and 5 had visual impairment. CONCLUSIONS: NSCSOB are a complex entity. They have in common a high risk of severe intracranial hypertension and rare hydrodynamic complications. Genetic screening is necessary to assert their non-syndromic nature. Prolonged follow-up of all craniosynostoses is necessary because unisutural synostoses can evolve into NSCSOB, and NSCSOB can evolve into craniofaciosynostosis.

Midfacial distraction without osteotomy using a transfacial pin and external devices.

INTRODUCTION: During the 1970s, frontofacial advancement revolutionized the treatment of severe facial stenosis. Unfortunately, this method was associated with significant morbidity due to the Le Fort III osteotomy, which creates a major communication between the frontocranial dead space and the nasal fossae. Midfacial distraction improves the complication rate by diminishing the size of this gap. The aim of our study was to present an original technique that uses external distraction frames and eliminates the need for Le Fort osteotomies. This innovative technique eliminates the gap between the skull and nose, thus avoiding related complications. PATIENTS AND METHODS: Between 1997 and 2008, we operated on 17 patients presenting midfacial retrusion and maxillomandibular class III malocclusion. We performed classic fronto-orbital advancement. The only facial osteotomies are vertical cuts of both the lateral orbital wall and the zygomatic arch. The distraction device is then anchored posteriorly with a K-wire and anteriorly with a transfacial pin through the maxilla. Finally, the distraction is performed horizontally until a class II overcorrection is obtained. RESULTS: No life-threatening complications or mortalities occurred. In all cases, the midfacial retrusion was corrected without relapse. All patients with complications fully recovered. It was observed that most complications were a result of either an overly rapid activation (>1 mm/d). DISCUSSION: Midface distraction using the external transfacial pin is a simple and safe procedure that allows an efficient correction of major facial retrusion. The external transfacial pin acts directly onto the maxilla and allows distraction without Le Fort osteotomy. By eliminating major osteotomies, it reduces the number of severe complications encountered in craniofacial surgery.

Maxillonasal osteochondral complex repair in maxillonasal dysplasia.

Surgical treatment of maxillonasal dysplasia or Binder syndrome is a challenge for surgeons. Its aim is to replace or substitute the missing or malformed anatomic structures. The authors report a comprehensive analysis for the understanding of the mechanisms resulting in the lack of maxillonasal development observed in Binder syndrome. The evolution of the surgical treatment due to facial function analysis is explained, and the surgical treatment of 20 consecutive cases over the last 20 years is reviewed, illustrated by three-dimensional reconstruction to emphasize the choice made and the results obtained. Bone grafts were always performed, and an arrow-shaped graft for the neospine reconstruction is described. This analysis allowed the authors to ameliorate patient self-image subsequently to facial contour improvement.