1/23. Cloverleaf skull anomaly with extreme orbitostenosis.A neonate presented with cloverleaf skull anomaly and severe proptosis requiring urgent cranioplasty to attain eyelid closure. Despite this, she experienced exposure keratitis and corneal perforations. A ventriculoperitoneal shunt was performed subsequently to relieve hydrocephalus, but respiratory problems eventually led to her death at 6 months. This case highlights the complexity of the problems encountered in the cloverleaf skull anomaly, and a brief review discussing its management is included. Despite improvements in treatment of this condition, the overall prognosis remains poor.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/23. Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis.A number of craniosynostotic disorders have recently been ascribed to mutations in genes coding for the fibroblast growth factor receptors(FGFRs). The common feature of these FGFR-associated conditions is the unilateral or bilateral premature ossification of the coronal suture. One distinct craniosynostotic condition is trigonocephaly, which results from the premature fusion of the metopic suture. Trigonocephaly mostly occurs as isolated cranial defect; however, the premature closure of the metopic suture may represent a feature of more complex craniosynostotic conditions in which a progressive involvement of other cranial sutures with age is observed. The possible involvement of mutated FGFRs in trigonocephaly was investigated in nine newborns affected by isolated premature synostosis of the metopic suture. All except one of these cases carried no mutations in the FGFR1-3 domains indicated as hot spots for craniosynostosis-associated mutations. A T(978)C transition in the FGFR2 exon IIIa was found in a patient who had a phenotype that apparently fitted the trigonocephalic condition at birth, but showed additional facial anomalies, which worsened progressively with age towards a Crouzon-like profile. The present finding points out the importance, from both diagnostic and prognostic points of view, of early FGFR mutational screening in craniosynostotic conditions, even in forms that apparently do not involve closure of the coronal suture at birth.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
3/23. Fontaine-Farriaux craniosynostosis: second report in the literature.Craniosynostosis is determined by the precocious fusion of one or more calvarial sutures leading to an abnormal skull shape. Additionally, nodular heterotopia is a disorder of neuronal migration and/or proliferation. We describe a very rare multiple congenital anomalies (MCA) syndrome in which craniosynostosis is associated with bilateral periventricular nodular heterotopia (BPNH) of the gray matter and other malformations involving hands, feet, and the gut. Clinical findings and further investigations suggest the diagnosis of craniosynostosis Fontaine-Farriaux type. To the best of our knowledge, this case is only the second report of this MCA syndrome. Based on the clinical and radiological data of the two cases reported, we hypothesize that this malformative complex may be considered a new BPNH/MCA syndrome and propose to classify it as BPNH/craniosynostosis. Previous studies demonstrated that at least two BPNH/MCA syndromes have been mapped to the Xq28 chromosomal region in which a causative gene for isolated BPNH is located. The same authors hypothesized that other BPNH syndromes could be due to microrearrangements at the same Xq28 region. Our case presents several overlapping features with some BPNH/MCA syndromes and it is possible that this new complex disorder may be caused by rearrangements at the same chromosomal region that could alter expression of different genes in Xq28.- - - - - - - - - - ranking = 2keywords = complex (Clic here for more details about this article) |
4/23. Isolated craniosynostosis: prenatal ultrasound of scaphocephaly with polyhydramnios.Craniosynostosis is an abnormal shape or dimension of the skull caused by premature closure of one or more skull sutures. It includes scaphocephaly, brachycephaly, oxycephaly, plagiocephaly, trigonocephaly, turricephaly, and a cloverleaf-shaped head. The only cases of craniosynostosis that have been reported concern fetuses with complex and marked craniosynostosis syndromes such as acrocraniofacial dysostosis, Apert's syndrome, Beare-Stevenson cutis gyratum syndrome, Calabro's syndrome, etc. Isolated or simple craniosynostosis, however, is a developmental anomaly rarely found on routine ultrasound examination. We present a case that was diagnosed as scaphocephaly with moderate polyhydramnios by prenatal ultrasound. No other structural anomaly was detected, and the karyotyping was normal. So isolated sagittal craniosynostosis was diagnosed prenatally and was confirmed by postnatal skull radiography as well as 3-dimensional computed tomography. The infant underwent bilateral parietal craniectomy at the age of 3 months. He obtained a good result with no mental problems 4 years after the operation. To our knowledge, this is the second report on the prenatal detection of an isolated form of craniosynostosis.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
5/23. Dual midfacial distraction osteogenesis: Le Fort III minus I and Le Fort I for syndromic craniosynostosis.Midfacial hypoplasia has been corrected by Le Fort III or monobloc forward advancement in one stage in syndromic craniosynostosis, but recently developed distraction osteogenesis has been in use. Whereas the amount of forward mobilization in Le Fort III conventional osteotomy is determined by the preplanned fabricated interdental splint, that in Le Fort III distraction is determined by the positions of the inferior orbital rim, malar complex, and nose. Therefore, the forward mobilization of the upper part of the midface may sometimes be insufficient when one focuses on the final occlusion, and the occlusion might not be satisfied when the forward mobilization is sufficient. Correction of the midfacial hypoplasia should be considered differently in the upper and lower portions of the midface. The upper portion contains the inferior orbit and nose, and the lower portion contains the occlusal structure of the maxillary dentoalveolar portion with the mandible. Separating the midface into two portions and conducting the distraction osteogenesis in both portions separately in different amounts and vectors of distraction is described in this article. Although distraction of the upper portion of the midface can be conducted in one direction with an internal device, distraction of the lower portion of the midface is preferred for conduction by a controllable device because of the need to obtain the preferred occlusion. To obtain better functional and aesthetic results in midfacial distraction in adults and adolescents with syndromic craniosynostosis, dual Le Fort III minus I and Le Fort I midfacial distraction osteogenesis was performed in four cases (in two patients with Crouzon syndrome and in two patients with Apert syndrome). Two females and two males are described (age range, 13 to 26 years). An internal device was used for the upper portion of the midface and an external device was used for the lower portion. The amount of distraction ranged from 14 to 21 mm in the upper portion of the midface and from 11 to 18 mm in the lower portion. No particular complications were noticed over a follow-up period of 10 to 38 months (average follow-up, 19.8 months).- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
6/23. scoliosis of the cranial base: radiological and mathematical analysis using finite elements system analysis (FESA) of a case.INTRODUCTION AND PROPOSED STUDY: Numerous deforming syndromes of the craniofacial complex involve also the symmetry of the cranial base. This study considers a particular alteration, that of 'scoliosis', in which the line Nasion-Sella-Basion-Inion is not rectilinear but curved, due to a torsion of the cranial base in the horizontal plane. MATERIALS: plagiocephaly was studied in one patient, which was probably caused by altered timing or mechanism of closure of the cranial sutures. methods: This study was carried out using CT images of the patient's craniofacial complex, using standard neuroradiological points. In order to study the forces that operated in the various complexes, a mathematical analysis was applied namely, a finite element system analysis (FESA). RESULTS: From this mathematical study, which has enabled us to evaluate the forces that operate in determining the deformity, it has been possible to locate two sites of force concentration. They were located at different levels and on opposite sides. CONCLUSION: This finding could explain why the middle and lower thirds of the face were also involved.- - - - - - - - - - ranking = 3keywords = complex (Clic here for more details about this article) |
7/23. Monobloc distraction osteogenesis in pediatric patients with severe syndromal craniosynostosis.The management of the hypoplastic midface in syndromic craniosynostosis remains a great challenge. Frequently, patients have to be operated on numerous times to achieve a satisfactory end result, partially because of the limited skeletal advancement possible when using traditional surgical techniques. During the last decade, however, methods for gradual midfacial distraction have been presented, whereby greater advancements can be obtained. We present four children aged 17 months to 15 years with severe syndromal craniosynostosis in need of midface advancements because of severe respiratory obstruction or severe exophthalmos. These patients were complex cases with several previous craniofacial surgeries (mean of three times, range of two to six times) that yielded insufficient skeletal advancements. They were operated on with gradual monobloc advancements using the Modular Internal Distraction System. The mean length of operations was 370 minutes (range: 240-455 minutes), and the mean amount of perioperative blood transfusion needed was 1,300 ml (range: 280-2,700 ml) or 66.9 ml/kg (range: 31.1-94.9 ml/kg). The patient with the greatest number of previous operations also had the longest operation time as well as the most blood loss. The average midface advancement obtained was 25 mm (range: 20-30 mm), resulting in cessation or a significant decrease of preoperative respiratory problems, reduced exophthalmos, and improved facial profile. Apart from a local infection in one patient with a connective tissue disorder and several previous wound infections, no major postoperative complications were recorded. Distraction osteogenesis has become a versatile and safe technique that allows for large advancements of the midface.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
8/23. Craniosynostosis associated with partial duplication of 15q and deletion of 2q.We report on an infant with multiple congenital anomalies including complex craniosynostosis associated with an unbalanced karyotype, 46,XY,-2, der(2),t(2;15)(q37;q26)pat. The previous report of a child with cloverleaf skull and partial duplication of 15q25 qter and the Man-on-Mouse Homology map suggests that a critical segment for synostosis of sutures may be in this region.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
9/23. A case of unilateral coronal synostosis in a child with craniofacial microsomia.Craniofacial microsomia is a congenital malformation complex associated with a wide array of craniofacial and extracraniofacial anomalies. Frontal plagiocephaly has been shown to occur in approximately 5% to 12% of patients with craniofacial microsomia. The etiology of craniofacial microsomia-associated frontal plagiocephaly is unclear; of the cases described in the literature, all but one had physical findings suggestive of deformational plagiocephaly. In the case with equivocal physical findings, radiographic studies showed no evidence of craniosynostosis. Unlike the above cases, we report a documented case of radiologically-confirmed unilateral coronal synostosis in a child with craniofacial microsomia.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
10/23. Hypomandibular faciocranial dysostosis: report of an affected sib and follow-up.Hypomandibular faciocranial dysostosis is a condition heretofore described only in a single case. We report the birth of an affected sister along with follow-up information on the initial surviving patient. While a primary error in neural crest development was postulated in this syndrome, subsequently discovered anatomical abnormalities suggest a more complex pathogenesis.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
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