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A Review of the Management of Single-Suture Craniosynostosis, Past, Present, and Future

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A Review of the Management of Single-Suture Craniosynostosis, Past, Present, and Future LITERATURE REVIEW J Neurosurg Pediatr 24:622–631, 2019 A review of the management of single-suture craniosynostosis, past, present, and future JNSPG 75th Anniversary Invited Review Article Mark R. Proctor, MD,1 and John G. Meara, MD, DMD, MBA2 Departments of 1Neurosurgery and 2Plastic and Oral Surgery, Boston Children’s Hospital, Boston, Massachusetts BACKGROUND Craniosynostosis is a condition in which 2 or more of the skull bones fuse prematurely. The spectrum of the disorder most commonly involves the closure of a single suture in the skull, but it can also involve syndromic di- agnoses in which multiple skull bones and/or bones outside of the cranium are affected. Craniosynostosis can result in cosmetic deformity as well as potential limitations in brain growth and development, and the neurocognitive impact of the condition is just starting to be studied more thoroughly. Our knowledge regarding the genetics of this condition has also evolved substantially. In this review, the authors explore the medical and surgical advancements in understanding and treating this condition over the past century, with a focus on how the diagnosis and treatment have evolved. METHODS In this review article, the authors, who are the leaders of a craniofacial team at a major academic pediatric hospital, focus on single-suture craniosynostosis (SSC) affecting the 6 major cranial sutures and discuss the evolution of the treatment of SSC from its early history in modern medicine through the current state of the art and future trends. This discussion is based on the authors’ broad experience and a comprehensive review of the literature. SUMMARY The management of SSC has evolved substantially over the past 100 years. There have been major ad- vances in technology and medical knowledge that have allowed for safer treatment of this condition through the use of newer techniques and technologies in the fields of surgery, anesthesia, and critical care. The use of less invasive surgi- cal techniques along with other innovations has led to improved outcomes in SSC patients. The future of SSC treatment will likely be guided by elucidation of the causes of neurocognitive delay in these children and assessment of how the timing and type of surgery can mitigate adverse outcomes. https://thejns.org/doi/abs/10.3171/2019.7.PEDS18585 KEYWORDS craniosynostosis; craniofacial; endoscopic; anesthesia; cosmetic; cognitive HE human skull is similar to other mammalian are, during our early formative years. It is this complete skulls; however, it has been adapted for certain dependency on others early in life that has led to the so- unique characteristics of our species. These adapta- cialization of the human species as we know it. Ttions include our large brains, which could not fit through the pelvis if allowed to grow to full maturity, and our up- Embryology and Genetics Review right posture, which causes the weight of the human fetus to rest on the female pelvic outlet rather than the abdomi- The calvarial vault of the human skull forms as a re- nal wall. As such, in humans, unlike other mammalian sult of a complex set of processes. The regions of the skull species, gestational pregnancy ends well before significant above the mendosal suture, at the midpoint of the occipital brain maturity has been achieved. As a result, much of bone, are formed by membranous bone formation, a pro- our brain growth occurs over the first 1 to 2 years of life, cess unique to the skull.40 Below this region, endochondral corresponding to our ability to ambulate, obtain language bone formation is the primary process.27 skills, and otherwise develop into the unique creatures we The cranial sutures work as the junctions of the mem- ABBREVIATIONS SSC = single-suture craniosynostosis; UCS = unilateral coronal synostosis. SUBMITTED July 26, 2019. ACCEPTED July 29, 2019. INCLUDE WHEN CITING DOI: 10.3171/2019.7.PEDS18585. 622 J Neurosurg Pediatr Volume 24 • December 2019 ©AANS 2019, except where prohibited by US copyright law Unauthenticated | Downloaded 10/07/21 02:05 PM UTC Proctor and Meara FIG. 1. A: Lateral view of membranous formation of the skull early in gestation. Note the mendosal suture, in the midportion of the occipital bone, which represents the embryological divide between membranous bone formation above and endochondral skull growth below. In most individuals the mendosal suture is fused by full gestation. B: Similar view at full gestation showing normal lateral skull anatomy. Copyright Mark Proctor. Used with permission. branous plates and serve as the growth centers of the Primary craniosynostosis is the pathologic fusion of skull.34 As the brain increases in volume, the plates are one or more cranial sutures in such a fashion that the brain pushed apart, and new bone is rapidly generated by the growth is limited at some sutures and overcompensated sutures.46 Membranous bone formation is regulated by a for at the other cranial sutures. In 1851, Virchow stated complex set of genetic processes, with the common mech- that normal skull growth is perpendicular to the sutures, anism for craniosynostosis involving upregulated osteo- and pathological growth in the setting of synostosis occurs blastic activity and downregulated osteoclastic activity parallel to the fused suture.48 While this theory is overly and leading to overgrowth and fusion of the bone at the simplistic mechanistically, it is a useful way to understand cranial sutures during gestation at a point when apoptosis and predict the dysmorphology associated with craniosyn- should have occurred.27 ostosis. In another theory, espoused by Moss, the primary Craniosynostosis is a condition that affects the mem- etiology is attributed to abnormal development of the cra- branous portions of the skull, causing premature fusion nial base that leads to a secondary effect on the corre- of one or multiple cranial sutures. The base of the skull, sponding suture through the dural attachment, an elegant under the embryological dividing line called the mendosal concept but one that does not completely reflect the mor- suture, can also be affected by abnormal growth, such as phological outcomes.42 Common deformities associated in achondroplasia and other types of skeletal dysplasia, but with craniosynostosis are outlined in Fig. 2. this process is distinct from synostosis.20 In this review, we focus on single-suture craniosynostosis (SSC) affect- Rationale for Treatment ing the 6 major cranial sutures (Fig. 1). Craniosynostosis occurs on average in 1 child out of 2500 live births.50 As SSC is almost never a life-threatening condition. It is previously discussed, it appears that the abnormal closure likely that many children could live a relatively normal life without any intervention. The rationale for treatment falls of the suture is a consequence of a genetic predisposition, into 2 categories: correction and prevention of cosmetic although other theories have been espoused.20,40,41 deformity and prevention of abnormal brain development. Growth Patterns of the Skull Cosmetic Deformity An overly simplistic but useful way of imagining head Since most children with SSC present with cosmetic growth is to think about the skull as a balloon, being in- deformity, it is clear that there is a significant concern to flated by the brain, which would be analogous to the air the family and the patient’s medical providers. For many within a balloon. As the brain grows, it pushes the bones of these patients, if the condition is left untreated, the de- apart in a typical oblong fashion, and this happens in such formity will be noticeable as they get older and could be a way that the growth of the brain and its contents is exact- a source of psychological concern for the patient and fam- ly matched by new bone growth at the sutures.46 Any con- ily. Generally speaking, the deformity noticed at birth will dition that leads to overgrowth of the brain, for instance, progress through the rapid growth of the brain, during the hydrocephalus, causes a disruption of this homeostasis. In first 6 to 9 months of life. There is a misconception that this condition, the bone growth cannot keep pace with the the deformity continues to worsen over the course of a life- brain growth, and the sutures are splayed. Similarly, un- time. In fact, since the head is approximately 25% of the dergrowth of the brain, for instance, secondary to a peri- body mass in infancy, the deformity tends to be relatively natal stroke, can cause the loss of outward growth of the more noticeable during this period, whereas in adulthood, brain and lead to a subsequent fusion of the bone plates when the head is approximately 9% to 10% of the body (usually referred to as secondary craniosynostosis). mass, the same cosmetic deformity is less noticeable.25 J Neurosurg Pediatr Volume 24 • December 2019 623 Unauthenticated | Downloaded 10/07/21 02:05 PM UTC Proctor and Meara FIG. 2. Bird’s-eye view of normal skull anatomy and the 4 major forms of SSC. Copyright Mark Proctor. Used with permission. This is not a rationale to avoid surgery, but for families over the upcoming decades there will be better under- who are undecided about the intervention and concerned standing of the effects of timing of surgery on SSC treat- about worsening cosmetic appearance, they can be reas- ment.4,53,59,61,62 sured that the cranial dysmorphology does not progress in adulthood and may become relatively less apparent.1 Treatment Brain Development The singular challenge for craniofacial surgeons is that synostosis repair, even for a single suture, can be a Brain and cognitive development and executive func- large operation in a very small child. There are constant tions in the setting of craniosynostosis are much less well attempts to minimize the invasiveness of the techniques, understood than the cosmetic issues and represent impor- determine the optimal age of surgery, and optimize the tant areas for future research in craniofacial surgery.
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