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Craniosynostosis Medical School in Berlin in 2014 r e v i e w a r t i c l e Josephine Jung graduated from Craniosynostosis Medical School in Berlin in 2014. After completing Abstract Embryology her M.D. Thesis in Craniosynostosis is a group of conditions The human cranium is divided into the neuro- Berlin she moved characterised by the premature fusion of cranium housing the brain, and the viscero- to London and is one or more cranial vault sutures. This may cranium, comprising the face. The neurocra- working as a Clinical Research Fellow lead to abnormal cranial development with nium forms from embryonic mesenchyme in Neurosurgery at severe skull and craniofacial deformities of neural crest (frontal bone) and paraxial King’s College Hospital London. and if the condition is left untreated, other mesoderm (parietal bone) origin,13 which complications such as raised intracranial surrounds the brain and forms primary ossi- pressure and cranial growth restriction may fication centres termed bone spicules. Each Jordan Lam be implicated. island of mineralised tissue migrates and is an Academic Craniosynostosis can arise as part of a undergoes intramembranous ossification to Foundation Trainee in genetic syndrome, or nonsyndromically form the plates of the neurocranium. These the East Midlands. He where the pathophysiology remains less clear. plates remain separated in early infanthood, is pursuing a career in neurosurgery. Occurring in 1 in 2,000 to 2,500 live births, allowing for passage during labour and diagnosis is carried out shortly after birth and continued growth of the brain after birth. treatment of craniosynostosis mostly involves The metopic suture fuses between 3 to 9 surgery varying from less invasive procedures months whilst the sagittal, coronal and lamb- in those patients diagnosed early to single or doid sutures do not stop growing until the Ruth-Mary repeated open calvarial reconstruction in the second decade and eventually fuse within more complex cases. the third decade.14-16 Each plate approaches deSouza This article reviews the different types of one another but remains separated by the obtained her medical craniosynostosis with their variable pres- formation of a suture: the two halves of the degree in 2008 from King’s College entations, underlying genetic mutations, frontal bone by the metopic suture; the frontal London and her associated complications and neuro-psych- and parietal bones by the sagittal suture; the MRCS in 2010. ological outcomes before discussing its two halves of the parietal bone by the coronal management with distinct emphasis on suture; and the parietal and occipital bones surgical treatment options within a multi- by the lambdoid suture. Fontanelles, namely Ian Anderson disciplinary team. membrane-covered “soft spots”, are located at is a Consultant the intersection of sutures: the larger anterior Neurosurgeon at Introduction fontanelle at the intersection of the metopic, Leeds General Craniosynostosis is a group of conditions coronal and sagittal sutures and the smaller Infirmary. Having characterised by premature fusion of one or posterior fontanelle at the intersection of trained in Leeds, he has previously more of the cranial vault sutures. This can the sagittal and the lambdoid sutures. These undertaken a lead to abnormal cranial development and fontanelles usually fuse by the age of 18 Neurovascular give rise to severe skull and craniofacial months and 3 to 6 months respectively.14 Fellowship at King’s deformities. Craniosynostosis can arise as part College Hospital. of syndromes, with specific gene mutations Types resulting in other non-cranial manifestations Premature fusion of the sutures implicates in addition to synostosis, or nonsyndromically that the normal growth of the neurocranium where the pathophysiology remains less clear. is arrested at one or more sites. In order to Paul Chumas Both types of craniosynostosis can be familial accommodate the growing brain, compen- is a Consultant or sporadic. Occurring in 1 in 2,000 to 2,500 satory growth occurs at other sites leading to Paediatric live births,1-3 infants are diagnosed at birth or abnormal cranial development and deformity. Neurosurgeon in 4 Leeds General within a few months thereafter and should This was described in 1851 through Virchow’s Infirmary. preferably have treatment within their first law that states that if a suture prematurely year of life.5 If the condition is left untreated, fuses, growth is arrested perpendicular to the craniosynostosis can lead to further deformity suture and is increased parallel to it.17,18 Thus, and other complications such as raised intra- it explains the characteristic and predictable Correspondence to: 6-7 Josephine Jung, cranial pressure and cranial growth restric- patterns of cranial growth that occur as a result Department of Neurosurgery, tion. The treatment mostly involves surgery of the premature fusion of distinctive sutures King's College Hospital, London, UK. varying from less invasive procedures in (see Figure 1, adapted from Senarath-Yapa et Conflict of interest statement: those patients diagnosed early8-10 to single or al., 201219). None declared repeated open calvarial reconstruction in the Sagittal synostosis is the most common type, 11,12 Provenance and peer review: more complex cases. There are a number accounting for 40-55% of nonsyndromic cran- Submitted and externally reviewed of clinicians involved in the care of children iosynostosis.17,20 Caused by premature fusion with this condition, highlighting the import- of the sagittal suture, growth is arrested in Date first submitted: 14/12/17 Date resubmitted after peer review: 25/9/18 ance of a multidisciplinary team. This article the transverse direction and increased in Acceptance date: 3/10/18 will review the different types of craniosyno- the anteroposterior direction, resulting in an stoses with their variable presentations, the anteroposterior elongation with frontal bossing To cite: Jung J, Lam J, deSouza R-M, Anderson I, Chumas P. ACNR 2018;18(2):5-11. underlying genetic mutations, complications and occipital prominence. This characteristic and neuro-psychological outcomes before “long boat” shape skull is termed scapho- discussing its management with distinct cephaly (derived from skaphos: Greek term emphasis on surgical treatment options within for skiff). a multidisciplinary team. Coronal synostosis has been superseded ACNR > VOLUME 18 NUMBER 2 > NOVEMBER-JANUARY 2019 > 5 r e v i e w a r t i c l e A Normal skull D Unicoronal synostosis with nasal deviation (left) / Bicoronal synostosis with brachiocephaly (middle/right) Frontal Coronal bone suture Squamous Parietal suture bone Lambdoid suture Sphenoid bone Coronal Occipital suture bone Temporal bone Coronal suture B Metopic synostosis with trigonocephaly Metopic suture anterior Metopic suture E Unilateral lambdoid synostosis with posterior plagiocephaly anterior contralateral Saggital synostosis with scaphocephaly frontal C bossing Lambdoid suture Sagittal suture Sagittal suture Ipsilateral ear inferior anterior and posterior normal anterior Figure 1. Cranial sutures and deformity of single suture craniosynostosis. With permission from Senarath-Yapa. by metopic as the second most common This narrowing of the frontal bone produces "Mercedes Benz" sign due to the changes on nonsyndromic synostosis as several studies a pointed triangular forehead with orbital the X-rays.27 Bilateral lambdoid synostosis is have shown over the past decade.3,21,22 It occurs hypotelorism and a ridge along the fused associated with a Chiari I abnormality (with in 20-24% of nonsyndromic cases23,24 and can metopic suture and there may be compensa- protrusion of cerebellar tonsils through the be either unilateral or bilateral. tory posterior growth causing widening of the Foramen magnum) and can appear similar to Premature fusion of the coronal suture parietal regions. This is called trigonocephaly brachycephaly due to coronal synostosis. bilaterally produces the opposite pattern (trigonos: Greek term for triangle). However, A similar presentation, and by far the of abnormal growth to sagittal synostosis, it is important to note that ridging not infre- most common one, can occur in positional arresting growth in the anteroposterior direc- quently occurs with normal fusion during the plagiocephaly ("moulding"), a prevalent tion and increased growth in the transverse first few months of life and does not require acquired cranial asymmetry that emerges at 6 direction, producing a short wide head called surgery.26 weeks of age and can largely be attributed to brachycephaly (from the Greek term brachkus Lambdoid synostosis is rare, occurring in the supine sleeping position recommended for for short). Unilateral coronal synostosis causes 0-5% of non-syndromic cases17,20 and is usually infant safety (in the UK generally referred to as flattening of the ipsilateral forehead and unilateral. Due to premature fusion of one of the "Back to Sleep" campaign for the preven- displacement of the ipsilateral lesser wing of the lambda sutures there is arrested growth tion of Sudden Infant Death Syndrome).28-30 the sphenoid bone superolaterally called the of the ipsilateral occipital region causing The two can be difficult to distinguish (see “harlequin eye deformity” since radiograph- ipsilateral occipital flattening, posteroinferior Figure 2), but the ipsilateral ear is anteriorly ically it has the appearance of a masquerade displacement of the ipsilateral ear and tilting displaced in positional plagiocephaly and skull mask. Other features
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