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Paper 3
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
A 12 month old boy is referred to the paediatricians for abnormal head circumference. A skull radiograph confirms premature fusion of the coronal suture with frontal bossing. Both sides of the head are affected causing the skull to appear short and wide.
Craniofacial Surgery
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Benjamin Robertson, Sujata De, Astrid Webber, Ajay Sinha
Saethre–Chotzen syndrome was first described in 1931. This is an extremely variable autosomal dominant condition, although abnormalities may be milder than in other syndromic craniosynostosis conditions. Because of this, a mildly affected parent may not be aware that they also have the condition until after their more obviously affected child is diagnosed. The most commonly affected suture is the coronal suture and the craniofacial abnormalities are frequently asymmetric. Associated features may include ptosis, a low anterior hairline, small ears with a prominent horizontal crus, mild cutaneous syndactyly and broad thumbs and great toes. Mutations in the gene TWIST1 cause Saethre–Chotzen syndrome but the phenotype has also been seen in association with the Pro250Arg mutation in FGFR3 and with TCF12 mutations.43–45
Clinical anatomy of the newborn
Published in Prem Puri, Newborn Surgery, 2017
Mark D. Stringer, S. Ali Mirjalili
The skull vault is formed by intramembranous ossification, the facial skeleton is derived from neural crest membrane bones, and the skull base and some bony pharyngeal arch derivatives (e.g., hyoid bone and ossicles) by endochondral ossification.3 During birth, the margins of the frontal and parietal bones are able to slide over each other. In the first 2 days of life, palpable overriding of the bones of the vault is common. However, persistent ridging of suture lines may indicate craniosynostosis. Growth at the coronal suture is mostly responsible for fronto-occipital expansion of the skull; premature fusion causes brachycephaly if bilateral and plagiocephaly if unilateral. Growth at the metopic and sagittal sutures increases skull breadth, the metopic suture fusing at around 18 months of age and the sagittal at puberty. Premature fusion produces the elongated skull of sagittal craniosynostosis, the most common form of craniosynostosis. Premature babies have a tendency to develop a long thin head (dolichocephaly) secondary to postnatal gravitational molding, but this is not due to premature sutural fusion.
Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology
Published in Fetal and Pediatric Pathology, 2022
Gabriele Tonni, Gianpaolo Grisolia, Maurizia Baldi, MariaPaola Bonasoni, Vladimiro Ginocchi, Liliam Cristine Rolo, Edward Araujo Júnior
To the best of our knowledge, this is the second case of Apert syndrome diagnosed early in the second trimester of pregnancy (19 weeks) as previously reported by Pooh et al. [10]. In the case reported by Pooh. et al. [10] the molecular analysis demonstrated a Ser252Trp mutation at the level of the FGFR2 gene; however, no chondral histology of the bone or additional imaging other than ultrasound was described. In addition, two other cases have been described in the medical literature, one diagnosed at 22 weeks [11] and the other seen at 21 weeks and confirmed at 23 weeks by MRI and ultrasound [12]. In both cases, genomic DNA confirmed the prenatal diagnosis of Apert syndrome. Apert syndrome should be differentiated with another craniosynostosis called Saethre-Chotzen syndrome (SCS). The latter is genetically due to a microdeletion affecting the chomosome 7 at locus p21. Phenotypically, SCS is characterized by symmetrical or asymmetrical craniosynostosis resulting from premature closure of the coronal suture compared to the premature closure of the metopic sutures as seen in Apert syndrome. Similarly to Apert syndrome, syndactyly is usually an associated finding.
Spatial and temporal changes of midface in Apert’s syndrome
Published in Journal of Plastic Surgery and Hand Surgery, 2019
Xiaona Lu, Antonio Jorge Forte, Rajendra Sawh-Martinez, Robin Wu, Raysa Cabrejo, Alexander Wilson, Derek M. Steinbacher, Michael Alperovich, Nivaldo Alonso, John A. Persing
The inadequate zygoma anterior protrusion is possibly a positional problem rather than overall hypogenesis, as the gradually increased zygoma transverse width, which was measured as the distance between the zygomatic ‘peak point’ and self-base plane (defined by the midpoints of the 3 sutures around zygoma, the zygomaticomaxillary suture, zygomaticotemporal suture and zygomaticofrontal suture) (Figure 1). Premature fusion of the coronal suture, the most common situation in Apert’s syndrome, may be the primary abnormality affecting the frontal sphenoid zygomatic synostosis [15,16]. The hypothesis that premature suture fusion limits the growth of skull bone at sutures, in a perpendicular direction, and compensatory growth occurs in parallel to it, is supported by this data [17,18]. It is hypothesized that the premature fusion of the coronal sutures shortens the anteroposterior growth of both cranium and skull base, could thereby, in turn, also limit the anteroposterior growth of zygoma [19,20].
Endoscopic neuroendoscopy using a novel ventricular access port
Published in British Journal of Neurosurgery, 2018
Andrew John Gauden, Calum Pears, Andrew Parker, Kelvin Woon, Helge Köck, Martin Hunn, Warren Symons, Agadha Wickremesekera
Since 2008 our institution has utilised a standard surgical technique for our ETVs using the VAP. Similar to published reports of an ETV a burr-hole was placed in the skull approximately 13 cm posterior to the nasion, 3 cm lateral to the midline and 1 cm anterior to the coronal suture measured in a straight line.4 In more recent insertions we have used a stereotactic Stealth PCI probe (Medtronic) within the port channel. The burr hole diameter has to be slightly greater than the outer sheath and a few mm less that the adjustable plate. After cauterisation, the dura was incised with an 11-blade and the edges are cauterised using bipolar coagulation to achieve adequate haemostasis and facilitate exposure. The pia was also coagulated and similarly incised to allow for ventricular cannulation.