Jesse A Taylor1,2, Scott P Bartlett1,2. 1. Philadelphia, Pa. 2. From the Division of Plastic Surgery, The Children's Hospital of Philadelphia; and the Division of Plastic Surgery, Perelman School of Medicine, University of Pennsylvania.
Abstract
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Understand the role of prenatal screening and counseling of parents of unborn children with syndromic craniosynostosis. 2. Recognize the genetic abnormalities, craniofacial phenotype, associated anomalies, and challenges associated with each of the five major forms of syndromic craniosynostosis. 3. Identify the pros and cons associated with timing and types of cranial vault remodeling techniques in this patient population. 4. Understand the risks and benefits associated with midface advancement with Le Fort III, Le Fort II plus zygomatic repositioning, monobloc, and facial bipartition. 5. Understand the important role of psychological counseling throughout childhood in this at-risk group. SUMMARY: Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes are the five most common forms of syndromic craniosynostosis. Although each has different genetic underpinnings and associated anomalies, their hallmark finding is turribrachycephaly most often associated with bicoronal craniosynostosis. The role of prenatal screening and counseling is growing, with caregivers becoming involved before birth. Multidisciplinary care from birth onward involves craniofacial plastic surgeons, neurosurgeons, otolaryngologists, ophthalmologists, orthodontists, anesthesiologists, psychologists, speech therapists, and geneticists. Early partial, or regional, craniectomy may be urgently indicated in multisuture cases with signs of increased intracranial pressure. Others may be managed successfully with posterior cranial vault distraction, middle vault expansion, or fronto-orbital advancement. Some authors have advocated early monobloc advancement for those patients who require acute airway intervention and globe protection, although the risks of these procedures are high. Many patients will require midfacial advancement with a Le Fort III, Le Fort II plus zygomatic repositioning, monobloc, or facial bipartition. The indications, risks, and benefits for each midfacial procedure must be considered, as this step in the treatment algorithm may carry the greatest functional and aesthetic benefits but also the potential for the greatest morbidity. At the culmination of facial growth, it is not uncommon for patients to require conventional orthognathic surgery and other bony contouring and soft-tissue procedures. Finally, an understanding of the psychological aspects of craniofacial difference, both in affected individuals and in their families, is essential to a successful, holistic approach.
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Understand the role of prenatal screening and counseling of parents of unborn children with syndromic craniosynostosis. 2. Recognize the genetic abnormalities, craniofacial phenotype, associated anomalies, and challenges associated with each of the five major forms of syndromic craniosynostosis. 3. Identify the pros and cons associated with timing and types of cranial vault remodeling techniques in this patient population. 4. Understand the risks and benefits associated with midface advancement with Le Fort III, Le Fort II plus zygomatic repositioning, monobloc, and facial bipartition. 5. Understand the important role of psychological counseling throughout childhood in this at-risk group. SUMMARY: Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes are the five most common forms of syndromic craniosynostosis. Although each has different genetic underpinnings and associated anomalies, their hallmark finding is turribrachycephaly most often associated with bicoronal craniosynostosis. The role of prenatal screening and counseling is growing, with caregivers becoming involved before birth. Multidisciplinary care from birth onward involves craniofacial plastic surgeons, neurosurgeons, otolaryngologists, ophthalmologists, orthodontists, anesthesiologists, psychologists, speech therapists, and geneticists. Early partial, or regional, craniectomy may be urgently indicated in multisuture cases with signs of increased intracranial pressure. Others may be managed successfully with posterior cranial vault distraction, middle vault expansion, or fronto-orbital advancement. Some authors have advocated early monobloc advancement for those patients who require acute airway intervention and globe protection, although the risks of these procedures are high. Many patients will require midfacial advancement with a Le Fort III, Le Fort II plus zygomatic repositioning, monobloc, or facial bipartition. The indications, risks, and benefits for each midfacial procedure must be considered, as this step in the treatment algorithm may carry the greatest functional and aesthetic benefits but also the potential for the greatest morbidity. At the culmination of facial growth, it is not uncommon for patients to require conventional orthognathic surgery and other bony contouring and soft-tissue procedures. Finally, an understanding of the psychological aspects of craniofacial difference, both in affected individuals and in their families, is essential to a successful, holistic approach.
Authors: John S Sullivan; Alicia E Snider; Jeffrey Farrington; J Mason Shiflett; Kristin J Weaver; Laura S Humphries; Ian C Hoppe Journal: Childs Nerv Syst Date: 2021-05-10 Impact factor: 1.475
Authors: Chaya N Murali; Donna M McDonald-McGinn; Tara Lynn Wenger; Carey McDougall; Bridget M Stroup; Sarah E Sheppard; Jesse Taylor; Scott P Bartlett; Elizabeth J Bhoj; Elaine H Zackai; Avni Santani Journal: Am J Med Genet A Date: 2019-05-20 Impact factor: 2.802