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Journal articles on the topic 'Craniofacial syndromes'

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Author: Grafiati

Published: 10 December 2022

Last updated: 29 January 2023

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1

Schlieder, Daniel, and Michael R. Markiewicz. "Craniofacial Syndromes." Atlas of the Oral and Maxillofacial Surgery Clinics 30, no. 1 (March 2022): 85–99. http://dx.doi.org/10.1016/j.cxom.2021.11.004.

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2

Suri, Mohnish. "Craniofacial syndromes." Seminars in Fetal and Neonatal Medicine 10, no. 3 (June 2005): 243–57. http://dx.doi.org/10.1016/j.siny.2004.12.002.

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3

Buchanan, Edward P., Amy S. Xue, and Larry H. Hollier. "Craniofacial Syndromes." Plastic and Reconstructive Surgery 134, no. 1 (July 2014): 128e—153e. http://dx.doi.org/10.1097/prs.0000000000000308.

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4

Kjær, Inger. "Dental Approach to Craniofacial Syndromes: How Can Developmental Fields Show Us a New Way to Understand Pathogenesis?" International Journal of Dentistry 2012 (2012): 1–10. http://dx.doi.org/10.1155/2012/145749.

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The paper consists of three parts.Part 1: Definition of Syndromes. Focus is given to craniofacial syndromes in which abnormal traits in the dentition are associated symptoms. In the last decade, research has concentrated on phenotype, genotype, growth, development, function, and treatment.Part 2: Syndromes before Birth. How can the initial malformation sites in these syndromes be studied and what can we learn from it? In this section, deviations observed in syndromes prenatally will be highlighted and compared to the normal human embryological craniofacial development. Specific focus will be given to developmental fields studied on animal tissue and transferred to human cranial development.Part 3: Developmental Fields Affected in Two Craniofacial Syndromes. Analysis of primary and permanent dentitions can determine whether a syndrome affects a single craniofacial field or several fields. This distinction is essential for insight into craniofacial syndromes. The dentition, thus, becomes central in diagnostics and evaluation of the pathogenesis. Developmental fields can explore and advance the concept of dental approaches to craniofacial syndromes.Discussion. As deviations in teeth persist and do not reorganize during growth and development, the dentition is considered useful for distinguishing between syndrome pathogenesis manifested in a single developmental field and in several fields.

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5

S, Jeelani. "Craniofacial Abnormalities and Syndromes." Journal of Scientific Dentistry 4, no. 2 (2014): 56–61. http://dx.doi.org/10.5005/jsd-4-2-56.

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6

Schweinler, Bonita. "Orthoptics and Craniofacial Syndromes." American Orthoptic Journal 64, no. 1 (January 2014): 21–23. http://dx.doi.org/10.3368/aoj.64.1.21.

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7

M. Michael Cohen Jr, Sven Kreiborg. "Perspectives on craniofacial syndromes." Acta Odontologica Scandinavica 56, no. 6 (January 1998): 315–20. http://dx.doi.org/10.1080/000163598428239.

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8

Forrest, Christopher R., and Richard A. Hopper. "Craniofacial Syndromes and Surgery." Plastic and Reconstructive Surgery 131, no. 1 (January 2013): 86e—109e. http://dx.doi.org/10.1097/prs.0b013e318272c12b.

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9

Posnick, Jeffrey C. "The Craniofacial Dysostosis Syndromes." Clinics in Plastic Surgery 24, no. 3 (July 1997): 429–46. http://dx.doi.org/10.1016/s0094-1298(20)31037-3.

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10

Posnick, Jeffrey C. "The Craniofacial Dysostosis Syndromes." Clinics in Plastic Surgery 21, no. 4 (October 1994): 585–98. http://dx.doi.org/10.1016/s0094-1298(20)30726-4.

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11

Witsell, David L., John E. Buenting, and Amelia F. Drake. "AIRWAY ABNORMALITIES IN CRANIOFACIAL SYNDROMES." Oral and Maxillofacial Surgery Clinics of North America 7, no. 2 (May 1995): 337–44. http://dx.doi.org/10.1016/s1042-3699(20)30830-x.

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12

Swibel Rosenthal, Laura H., Nadieska Caballero, and Amelia F. Drake. "Otolaryngologic Manifestations of Craniofacial Syndromes." Otolaryngologic Clinics of North America 45, no. 3 (June 2012): 557–77. http://dx.doi.org/10.1016/j.otc.2012.03.009.

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13

Roomaney, Imaan Amina, and Manogari Chetty. "Sella Turcica Morphology in Patients With Genetic Syndromes: Protocol for a Systematic Review." JMIR Research Protocols 9, no. 11 (November 5, 2020): e16633. http://dx.doi.org/10.2196/16633.

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Background The sella turcica is an important anatomical reference used in orthodontics and the evaluation of craniofacial growth. Studies have found an association between variations in sella turcica morphology in patients with certain syndromes affecting the craniofacial complex. It is hypothesized that each related syndrome or pathological condition is associated with a specific pattern of malformation of the sella turcica. Objective This study outlines the protocol for a systematic review that aims to determine if genetic syndromes involving the craniofacial complex are associated with abnormal radiographic sella turcica morphology and if there is a pattern of malformation that is consistent with each syndrome. Methods An electronic database search was conducted using a planned search strategy to identify relevant studies. We included primary studies evaluating the morphology of the sella turcica based on imaging from a lateral view. Specifically, only studies with postnatal human participants with genetic syndromes involving the craniofacial complex were included in this review. We placed no restrictions on the language or time frame of these studies. Based on the search findings, studies were further screened for relevance and eligibility by two independent reviewers. Data were extracted from the selected studies. We assessed the selected studies for risk of bias and quality by using risk of bias tools from the Joanna Briggs Institute. We will provide a narrative synthesis of our findings and a structured summary based on prespecified themes. Results The protocol is registered with PROSPERO (#CRD42019148060) and approved by the University of Western Cape Biomedical Science Research Ethics Committee (BM205/3). The literature search was conducted in September 2019 and updated in July 2020. The study was completed in August 2020, and the findings will be published in an open-access journal. Conclusions The results of this systematic review are expected to provide a comprehensive list of morphological variations of the sella turcica, which will aid in the identification of syndromes associated with the craniofacial complex. We also expect to identify patterns of sella turcica morphology that highlight genotype-phenotype correlations, thus adding to the body of evidence relating to genetics and craniofacial malformations. Trial Registration PROSPERO International Prospective Register of Systematic Reviews CRD42019148060; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=148060 International Registered Report Identifier (IRRID) RR1-10.2196/16633

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14

Siismets, Erica M., and Nan E. Hatch. "Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis." Journal of Developmental Biology 8, no. 3 (September 9, 2020): 18. http://dx.doi.org/10.3390/jdb8030018.

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Craniofacial anomalies are among the most common of birth defects. The pathogenesis of craniofacial anomalies frequently involves defects in the migration, proliferation, and fate of neural crest cells destined for the craniofacial skeleton. Genetic mutations causing deficient cranial neural crest migration and proliferation can result in Treacher Collins syndrome, Pierre Robin sequence, and cleft palate. Defects in post-migratory neural crest cells can result in pre- or post-ossification defects in the developing craniofacial skeleton and craniosynostosis (premature fusion of cranial bones/cranial sutures). The coronal suture is the most frequently fused suture in craniosynostosis syndromes. It exists as a biological boundary between the neural crest-derived frontal bone and paraxial mesoderm-derived parietal bone. The objective of this review is to frame our current understanding of neural crest cells in craniofacial development, craniofacial anomalies, and the pathogenesis of coronal craniosynostosis. We will also discuss novel approaches for advancing our knowledge and developing prevention and/or treatment strategies for craniofacial tissue regeneration and craniosynostosis.

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15

Panthaki, Zubin J., and Milton B. Armstrong. "Hand Abnormalities Associated With Craniofacial Syndromes." Journal of Craniofacial Surgery 14, no. 5 (September 2003): 709–12. http://dx.doi.org/10.1097/00001665-200309000-00020.

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16

Posnick, Jeffrey C., Ramon L. Ruiz, and Paul S. Tiwana. "Craniofacial dysostosis syndromes: stages of reconstruction." Oral and Maxillofacial Surgery Clinics of North America 16, no. 4 (November 2004): 475–91. http://dx.doi.org/10.1016/j.coms.2004.08.004.

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17

Vandeput, An-Sofie, Carine Carels, Oliver Da Costa Senior, Hilde Peeters, and Constantinus Politis. "Frequency and Management of Craniofacial Syndromes." Journal of Craniofacial Surgery 31, no. 4 (June 2020): 1091–97. http://dx.doi.org/10.1097/scs.0000000000006364.

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18

Orlow, Seth J. "Cutaneous Findings in Craniofacial Malformation Syndromes." Archives of Dermatology 128, no. 10 (October 1, 1992): 1379. http://dx.doi.org/10.1001/archderm.1992.01680200089014.

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19

Orlow, S. J. "Cutaneous findings in craniofacial malformation syndromes." Archives of Dermatology 128, no. 10 (October 1, 1992): 1379–86. http://dx.doi.org/10.1001/archderm.128.10.1379.

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20

Paranaíba, Lívia Máris Ribeiro, Roseli Teixeira de Miranda, Leila Aparecida Ribeiro, Letízia Monteiro de Barros, and Hercílio Martelli-Júnior. "Frequency of congenital craniofacial malformations in a Brazilian Reference Center." Revista Brasileira de Epidemiologia 14, no. 1 (March 2011): 151–60. http://dx.doi.org/10.1590/s1415-790x2011000100014.

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OBJECTIVE: To evaluate the frequency of craniofacial anomalies in patients treated at a Brazilian Reference Center for craniofacial deformities. METHOD: Retrospective epidemiological study evaluating the clinical records of 1,142 patients: 656 (57.4%) male and 486 (42.6%) female, between 1992 and 2008. RESULTS: Among birth defects, non-syndromic cleft lip and/or palate were the most frequent ones (778 cases; 68.1%), followed by single or multiple congenital anomalies without cleft lip and/or palate (240 cases; 21%), recognized syndromes or sequences (56 cases; 5%), syndromes with orofacial cleft as a component (41 cases; 3.5%), and orofacial clefts in association with systemic malformations (27 cases; 2.4%). CONCLUSIONS: Non-syndromic cleft lip and/or palate was the congenital defect most frequently identified, although, isolated anomalies and syndromes involving craniofacial structures were quite frequent. Furthermore, the need for studies to identify the frequency and risk factors associated with craniofacial anomalies in the Brazilian population is emphasized in order to plan comprehensive strategies and integrated actions for the development of preventive programs and treatment.

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21

Farag, H. M., S. M. Kotb, G. A. Sweify, R. K. Fawzy, and S. R. lsmail. "A diagnostic clinical genetic study of craniofacial dysmorphism." Eastern Mediterranean Health Journal 5, no. 3 (June 15, 1999): 470–77. http://dx.doi.org/10.26719/1999.5.3.470.

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A diagnostic evaluation of craniofacial anomalies, either isolated or as part of a genetic syndrome was conducted on 25 patients [8 females, 17 males], age range 2 months to 47 years. Complete genetic examination, pedigree analysis, anthropometric measurements and radiological studies were carried out. Cytogenetic studies included fluorescence in situ hybridization [FISH]when indicated. In all, 15 patients had chromosomal abnormalities. Five patients had unbalanced chromosome rearrangements and six had chromosome markers. Three patients were FISH-positive for William syndrome and one was positive for Prader-Willi syndrome. Ten patients had monogenic disorders. Five were diagnosed as craniosynostosis syndromes. We conclude that minor features are useful for making a diagnosis of congenital anomalies

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22

Papay, Frank A., Vincent P. McCarthy, Isaac Eliachar, and James Arnold. "Laryngotracheal Anomalies in Children With Craniofacial Syndromes." Journal of Craniofacial Surgery 13, no. 2 (March 2002): 351–64. http://dx.doi.org/10.1097/00001665-200203000-00036.

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23

&NA;. "THE BLINK REFLEX IN CRANIOFACIAL PAIN SYNDROMES." Journal of Clinical Neurophysiology 17, no. 5 (September 2000): 527. http://dx.doi.org/10.1097/00004691-200009000-00029.

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24

Tan, Hui-Leng, Leila Kheirandish-Gozal, François Abel, and David Gozal. "Craniofacial syndromes and sleep-related breathing disorders." Sleep Medicine Reviews 27 (June 2016): 74–88. http://dx.doi.org/10.1016/j.smrv.2015.05.010.

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25

Hoeve, L. J. Hans, Marloes Pijpers, and Koen F. M. Joosten. "OSAS in craniofacial syndromes: an unsolved problem." International Journal of Pediatric Otorhinolaryngology 67 (December 2003): S111—S113. http://dx.doi.org/10.1016/j.ijporl.2003.08.007.

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26

Haug, R. H. "The craniofacial dysostosis syndromes: Current reconstructive strategies." Journal of Oral and Maxillofacial Surgery 53, no. 5 (May 1995): 630–31. http://dx.doi.org/10.1016/0278-2391(95)90094-2.

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27

Hoeve, L. J. Hans, Marloes Pijpers, and Koen F. M. Joosten. "OSAS in craniofacial syndromes: an unsolved problem." International Congress Series 1254 (November 2003): 181–84. http://dx.doi.org/10.1016/s0531-5131(03)01059-8.

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28

Dailey, Scott. "Feeding and Swallowing Management in Infants With Cleft and Craniofacial Anomalies." Perspectives on Speech Science and Orofacial Disorders 23, no. 2 (October 2013): 62–72. http://dx.doi.org/10.1044/ssod23.2.62.

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Infants with cleft and craniofacial anomalies may have feeding difficulties related to structural anomalies but also due to some physiologic dysfunction Pierre Robin Sequence and in 22q11.2 syndromes. This article discusses the feeding and swallowing difficulties in infants with cleft and craniofacial anomalies and how these difficulties are best managed by an interdisciplinary team. Management is based on individualized assessment of structural and physiologic abilities. Cleft-craniofacial teams and the American Cleft Palate-Craniofacial Association/Cleft Palate Foundation are valuable resources for parents and professions dealing with infants with feeding and swallowing disorders related to cleft and craniofacial anomalies.

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29

Poswillo, David. "The aetiology and pathogenesis of craniofacial deformity." Development 103, Supplement (September 1, 1988): 207–12. http://dx.doi.org/10.1242/dev.103.supplement.207.

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Craniofacial malformations have been recorded since time immemorial. While observational studies have assisted in the recognition of syndromes, little light has been shed on the causal mechanisms which interfere with craniofacial development. Animal studies in which malformations occur spontaneously or have been induced by teratogenic agents have permitted step-by-step investigation of such common deformities as cleft lip and palate. The role of the ectomesenchymal cells of the neural crest and the possible phenomenon of disorganized spontaneous cell death are described in relation to lip clefts. The factors associated with isolated cleft palate, Pierre Robin syndrome and submucous clefts are described by reference to animal models. The haemorrhagic accident preceding the onset of craniofacial microsomia is discussed as is the distinctly different phenomenon of disturbance to the migration or differentiation of neural crest cells in the pathogenesis of Treacher Collins syndrome. The more severe anomalies of the calvarium such as plagiocephaly, Crouzon and Apert syndrome still defy explanation, in the absence of an appropriate animal system to study; some thoughts on the likely mechanism of abnormal sutural fusions are discussed.

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30

Molpeceres, Rebeca Garrote, Elena Urbaneja Rodriguez, Hemenegildo González García, María Asunción Pino Vázquez, José Luis Hernanz Sanz, and Francisco Javier Álvarez Guisasola. "A rare case of acrocephaly: Saethre-Chotzen syndrome or Crouzon?" Case Reports in Perinatal Medicine 5, no. 2 (September 1, 2016): 151–55. http://dx.doi.org/10.1515/crpm-2015-0057.

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Abstract Acrocephaly is a common neonatal craniofacial malformation. Saethre-Chotzen syndrome (SCS) is one of the acrocephaly related syndromes less frequently described in the literature. A female newborn term was admitted to our Neonatal Unit to study craniofacial dysmorphia without family history of interest. Pregnancy, childbirth and the neonatal period were uneventful. She had exotropia, short anterior-posterior cranial diameter, flat occiput and wide normotensive anterior fontanelle (beginning at the nose root, continuing through the sagittal suture with the posterior fontanelle) without syndactyly. The scanner imaging confirmed an acrocephaly with fusion of bilateral coronal sutures. We initially suspected a cranyosinostosis due to a Crouzon syndrome or SCS. After differential diagnosis and genetic study the patient was diagnosed as having SCS due to a de novo TWIST1 gene mutation. The craniofacial dysmorphias were corrected early by neurosurgical with good results. This case shows a new example of the phenotypic and genotypic variability of these TWIST1 gene mutations.

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31

Khmara, T. V., M. O. Ryznychuk, N. B. Kuzniak, S. P. Melnychuk, S. O. Batranovska, and I. I. Zamorskii. "Ontology of Variants of the Structure and Malformations of the Skull. Part II. Hereditary Syndromes." Ukraïnsʹkij žurnal medicini, bìologìï ta sportu 6, no. 3 (June 26, 2021): 71–77. http://dx.doi.org/10.26693/jmbs06.03.071.

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Congenital abnormalities occur in 2-3% of all children and about 1% have hereditary syndromes or multiple malformations. About 30% of all cases have a cleft lip or palate. Genetic factors such as chromosomal abnormalities and gene mutations cause about 15% of congenital abnormalities; exogenous environmental factors cause about 10% of defects; a combination of genetic and environmental factors (multifactorial inheritance) cause 20-25%; multiple pregnancy causes 0.5-1% of congenital abnormalities. Craniofacial anomalies represent an important pediatric problem. They are among the leading causes of infant mortality and morbidity. Craniofacial anomalies mainly affect the development of the skull and facial bones. These defects range from mild to severe, which can be life-threatening and require immediate surgical intervention. Examination of patients with congenital cranial pathology is of particular importance, since a correct diagnosis can often be established only by taking into consideration all stigmas and malformations. The onset of pathology occurs during ontogenesis: normal embryonic development is disturbed under the influence of exogenous and endogenous factors, to which the body is particularly sensitive during critical periods. The consequences of various endogenous and exogenous factors are disruption of growth and development of the organism and occurrence of congenital malformations as an independent unit or occurrence of hereditary syndromes as a set of certain symptoms. Craniofacial syndromes can be divided into several groups. They are most often accompanied by premature fusion of cranial sutures (craniosynostosis) and syndromes with cleft formation. The most frequent syndromes in this group are: Crouzon syndrome, suture synostosis, microsomia, cerebral anomalies and midface clefts. These developmental disorders can lead to a variety of health consequences, namely affecting these patients’ respiratory health, appearance, brain development, hearing, vision, bite, speech, and mental development. Congenital malformations of the skull bones can be related to genetic mutations and environmental factors. Conclusion. Based on the analysis of the literature, a brief clinical characterization of the most common hereditary syndromes accompanied by cerebral and facial skull deformities is given, the type of inheritance and the gene mutation that causes these disorders are indicated

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32

Glander, Karl, and George J. Cisneros. "Comparison of the Craniofacial Characteristics of Two Syndromes Associated with the Pierre Robin Sequence." Cleft Palate-Craniofacial Journal 29, no. 3 (May 1992): 210–19. http://dx.doi.org/10.1597/1545-1569_1992_029_0210_cotcco_2.3.co_2.

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The craniofacial characteristics of two syndromes commonly associated with Robin sequence were compared for 49 subjects. Lateral cephalograms were analyzed for four groupings: Group I—Stickler syndrome with versus without Robin, Group II—velocardlofacial (VCF) syndrome with versus without Robin, Group III—Stickler without Robin compared to VCF without Robin, and Group IV—Stickler with Robin compared to VCF with Robin. Thirty-two skeletal and 18 soft tissue measurements were compared. In Group I, three skeletal measurements were significantly different (SNA, SNB, and SNPg). In Group II, no significant difference was found for any of the 50 measurements. In Group III, a significant difference was demonstrated for seven parameters (one skeletal, six pharyngeal and airway). In Group IV, two skeletal and eight airway measures were significantly different. The findings Indicate that the relative maxillary and mandibular retrognathia observed in Stickler/Robin patients may predispose them to the Robin sequence and vice versa; the Robin features In VCF may be caused by hypotonia rather than any craniofacial or physical obstruction of the airway; Stickler and VCF are similar in craniofacial morphology but show marked differences in pharyngeal and airway morphology; and cephalometrics should not be the sole prognosticator of the Robin sequence and Its association with Stickler and VCF.

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33

Deo, JaspreetKaur. "Craniofacial syndromes: Literature review and a proposed classification." Journal of Indira Gandhi Institute Of Medical Sciences 8, no. 2 (2022): 109. http://dx.doi.org/10.4103/jigims.jigims_9_22.

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34

Reid, Cheryl S. "Symposium: Craniofacial Evolution, Development, and Syndromes: Introductory Remarks." Cleft Palate-Craniofacial Journal 32, no. 6 (November 1995): 520. http://dx.doi.org/10.1597/1545-1569_1995_032_0520_ir_2.3.co_2.

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35

Cielo, Christopher M., and Carole L. Marcus. "Obstructive sleep apnoea in children with craniofacial syndromes." Paediatric Respiratory Reviews 16, no. 3 (June 2015): 189–96. http://dx.doi.org/10.1016/j.prrv.2014.11.003.

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36

Posnick, Jeffrey C., Paul S. Tiwana, and Ramon L. Ruiz. "Craniofacial Dysostosis Syndromes: Evaluation and Staged Reconstructive Approach." Atlas of the Oral and Maxillofacial Surgery Clinics 18, no. 2 (September 2010): 109–28. http://dx.doi.org/10.1016/j.cxom.2010.08.006.

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37

Patil, Shankargouda, and Barnali Majumdar. "Single Gene Disorders with Craniofacial and Oral Manifestations." Journal of Contemporary Dental Practice 15, no. 5 (2014): 659–71. http://dx.doi.org/10.5005/jp-journals-10024-1596.

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ABSTRACT Gene and environmental factors are instrumental in genesis of complex and wide range of disorders and syndromes. The newer gene sequencing and other advanced technologies have made our previous knowledge of genetic etiopathogenesis of various disorders more transparent. Single gene disorders refer to the disorders caused due to mutations in a single gene and a fair number of these manifest as craniofacial defects and anomalies. This review is an attempt to give a detailed insight into the varied single gene disorders and syndromes with an emphasis on dental implications. How to cite this article Patil S, Rao RS, Majumdar B. Single Gene Disorders with Craniofacial and Oral Manifestations. J Contemp Dent Pract 2014;15(5):659-671.

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38

Horn, Philippa, Carlie Driscoll, Jane Fitzgibbons, and Rachael Beswick. "Detecting Hearing Loss in Infants With a Syndrome or Craniofacial Abnormalities Following the Newborn Hearing Screen." Journal of Speech, Language, and Hearing Research 64, no. 9 (September 14, 2021): 3594–602. http://dx.doi.org/10.1044/2021_jslhr-20-00699.

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Purpose The current Joint Committee on Infant Hearing guidelines recommend that infants with syndromes or craniofacial abnormalities (CFAs) who pass the universal newborn hearing screening (UNHS) undergo audiological assessment by 9 months of age. However, emerging research suggests that children with these risk factors are at increased risk of early hearing loss despite passing UNHS. To establish whether earlier diagnostic audiological assessment is warranted for all infants with a syndrome or CFA, regardless of screening outcome, this study compared audiological outcomes of those who passed UNHS and those who referred. Method A retrospective analysis was performed on infants with a syndrome or CFA born between July 1, 2012, and June 30, 2017 who participated in Queensland, Australia's state-wide UNHS program. Results Permanent childhood hearing loss (PCHL) yield was higher among infants who referred on newborn hearing screening (51.20%) than in those who passed. Nonetheless, 27.47% of infants who passed were subsequently diagnosed with hearing loss (4.45% PCHL, 23.02% transient conductive), but PCHL was generally milder in this cohort. After microtia/atresia, the most common PCHL etiologies were Trisomy 21, other syndromes, and cleft palate. Of the other syndromes, Pierre Robin sequence featured prominently among infants who passed the hearing screen and were subsequently diagnosed with PCHL, whereas there was a broader mix of other syndromes that caused PCHL in infants who referred on screening. Conclusion Children identified with a syndrome or CFA benefit from early diagnostic audiological assessment, regardless of their newborn hearing screening outcome.

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Hoffman, Caitlin, Melissa Yuan, Andre Boyke, Imali Perera, Corinne Rabbin-Birnbaum, Ashley O’Connor, Mark Souweidane, and Thomas Imahiyerobo. "Impact of a Multidisciplinary Craniofacial Clinic for Patients With Craniofacial Syndromes on Patient Satisfaction and Outcome." Cleft Palate-Craniofacial Journal 57, no. 12 (August 27, 2020): 1357–61. http://dx.doi.org/10.1177/1055665620948767.

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Objective: Multidisciplinary clinics are becoming widely utilized. Given the number of patients with craniofacial syndromes evaluated at our institution, and the burden of assessment by multiple subspecialists, we created an American Cleft Palate-Craniofacial Association–certified Craniofacial Multidisciplinary Clinic (CMC) composed of a nurse practitioner, neurosurgeon, plastic surgeon, otolaryngologist, oromaxillofacial surgeon, geneticist, pulmonologist, occupational therapist, dentist, and child life specialist to improve patient experience, lessen the burden of assessment, decrease time to surgery, and improve patients’ understanding of the diagnosis and treatment plan specifically for patients with complex craniofacial syndromes. We reviewed the impact of this clinic after 1 year of implementation. Design: Retrospective review was performed to identify patients with craniofacial syndromic diagnoses seen by the neurosurgery department before and after implementation of the CMC from February 2017 to present. Setting: The CMC is an outpatient clinic based in a tertiary care academic institution. Patients: Chart review was performed to identify demographic, diagnostic, clinical, and treatment data. We assessed clinic experience, and the impact on quality of clinical and surgical care was assessed via survey. We compared this cohort to patients with similar craniofacial syndromes treated prior to the CMC. Thirty patients seen at the CMC were identified, and data from a comparable cohort of 30 patients seen prior to the clinic’s inception was reviewed. Results: Our CMC survey response rate was 67% (n = 20/30) for the CMC patients. Second opinions sought by parents prior to CMC was higher (mean = 0.85, range: 0-3) than for patients seen at the CMC (mean = 0.16, range: 0-1). Mean time to surgery before the CMC was 10.1 months (range: 1-15) compared to 4 months (range: 3-5) after implementation. Parents agreed that they felt well-informed about their diagnosis (n = 18/20, 90%), and that the presence of a plastic surgeon (19/20, 95%) and a nurse practitioner (17/20, 85%) were valuable in coordination of their care. Following surgery, 76% (n = 13/17) of patients who received surgery were happy with the outcome, 76% (n = 13/17) were happy with the appearance of the scar, and 95% (n = 19/20) would recommend the CMC to others. Conclusion: Multidisciplinary evaluation of patients with complex craniofacial conditions provides comprehensive, efficient, and effective care, as well as improved parent satisfaction and knowledge base.

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40

Seppala, Maisa, Finn Geoghegan, Guilherme Xavier, and Martyn T. Cobourne. "Using the mouse to understand the molecular basis of human craniofacial disorders." Faculty Dental Journal 2, no. 4 (October 2011): 196–202. http://dx.doi.org/10.1308/204268511x13154691747210.

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At first glance the humble mouse might seem an odd choice as a model for studying complex human craniofacial disorders. However, similarities in embryonic development and genome organisation, and our ability to manipulate its genes have made this species the model of choice for investigating human development. Here we describe some examples from our own laboratory of mouse models that are providing insight into the mechanisms underlying two human craniofacial syndromes.

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Singh, Gursharn, Supriya Malik, and Jaskeen Kaur. "Crouzon syndrome: a case report." International Journal of Contemporary Pediatrics 5, no. 1 (December 21, 2017): 260. http://dx.doi.org/10.18203/2349-3291.ijcp20175597.

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Crouzon syndrome is an example of syndromes caused by premature obliteration and ossification of two or more sutures, most commonly coronal and sagittal. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. This disorder is characterized by distinctive malformations of skull and face (craniofacial region). Premature cranial suture closure is the most common skull abnormality. The case of an 8-month-old boy with Crouzon syndrome which is one of syndromes associated with synostosis, is presented. He presented in OPD with a cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, characteristic radiological features and investigations carried out, along with treatment of this patient are discussed as part of multidisciplinary management.

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Coston, Gale Norman, Rona B. Sayetta, Harold I. Friedman, Martin C. Weinrich, Caroline A. Macera, Kathryn Meeks, Shawn K. Mcandrews, and Kandi S. Morales. "Craniofacial Screening Profile: Quick Screening for Congenital Malformations." Cleft Palate-Craniofacial Journal 29, no. 1 (January 1992): 87–91. http://dx.doi.org/10.1597/1545-1569_1992_029_0087_cspqsf_2.3.co_2.

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The correct identification of syndromes and other congenital malformations at an early age is critical for the child, family and care providers. Most specialists who conduct large screenings of young children are not adequately trained to recognize signs and symptoms that should lead to appropriate referral to the clinical geneticist and/or diagnostic team. A systematic approach for recognizing important signs is presented here; a Craniofacial Screening Profile. Following a brief training program, the Profile was validated by 39 speech-language pathologists in screening 3,539 kindergarten and first grade children. The results were excellent (specificity was 99.6%), demonstrating that with limited training, specialists can effectively screen for important signs and symptoms of a major group of syndromes and other congenital malformations.

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Elias, W., and Kim Burchiel. "Trigeminal Neuralgia and Other Craniofacial Pain Syndromes: An Overview." Seminars in Neurosurgery 15, no. 01 (July 7, 2004): 59–69. http://dx.doi.org/10.1055/s-2004-830014.

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Shankland II, Wesley E. "Anterior Throat Pain Syndromes: Causes for Undiagnosed Craniofacial Pain." CRANIO® 28, no. 1 (January 2010): 50–59. http://dx.doi.org/10.1179/crn.2010.007.

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Ousterhout, Douglas K., and Karin Vargervik. "Aesthetic improvement resulting from craniofacial surgery in craniosynostosis syndromes." Journal of Cranio-Maxillofacial Surgery 15 (January 1987): 189–97. http://dx.doi.org/10.1016/s1010-5182(87)80048-3.

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Cruccu, G. "WS-26-5 Jaw reflexes in craniofacial pain syndromes." Electroencephalography and Clinical Neurophysiology/Electromyography and Motor Control 97, no. 4 (September 1995): S51—S52. http://dx.doi.org/10.1016/0924-980x(95)92602-i.

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Bartzela, Theodosia N. "Treatment approaches to syndromes affecting craniofacial and dental structures." Journal of the World Federation of Orthodontists 8, no. 4 (December 2019): 131–37. http://dx.doi.org/10.1016/j.ejwf.2019.10.002.

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Pirsig, Wolfgang. "Congenital craniofacial malformations or syndromes in the visual arts." Laryngoscope 122, S4 (December 2012): S69—S74. http://dx.doi.org/10.1002/lary.23823.

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Moore, Emily R. "Primary Cilia: The New Face of Craniofacial Research." Biomolecules 12, no. 12 (November 22, 2022): 1724. http://dx.doi.org/10.3390/biom12121724.

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The primary cilium is a solitary, sensory organelle that extends from the surface of nearly every vertebrate cell, including craniofacial cells. This organelle converts chemical and physical external stimuli into intracellular signaling cascades and mediates several well-known signaling pathways simultaneously. Thus, the primary cilium is considered a cellular signaling nexus and amplifier. Primary cilia dysfunction directly results in a collection of diseases and syndromes that typically affect multiple organ systems, including the face and teeth. Despite this direct connection, primary cilia are largely unexplored in craniofacial research. In this review, I briefly summarize craniofacial abnormalities tied to the primary cilium and examine the existing information on primary cilia in craniofacial development and repair. I close with a discussion on preliminary studies that motivate future areas of exploration that are further supported by studies performed in long bone and kidney cells.

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Choi, T. M., O. W. Lijten, I. M. J. Mathijssen, E. B. Wolvius, and E. M. Ongkosuwito. "Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis." Clinical Oral Investigations 26, no. 3 (December 14, 2021): 2927–36. http://dx.doi.org/10.1007/s00784-021-04275-y.

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Abstract Objectives To determine whether the midface of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis is hypoplastic compared to skeletal facial proportions of a Dutch control group. Material and methods We included seventy-four patients (43 patients with Muenke syndrome, 22 patients with Saethre-Chotzen syndrome, and 9 patients with TCF12-related craniosynostosis) who were referred between 1990 and 2020 (age range 4.84 to 16.83 years) and were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children’s Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands. The control group consisted of 208 healthy children. Results Cephalometric values comprising the midface were decreased in Muenke syndrome (ANB: β = –1.87, p = 0.001; and PC1: p < 0,001), Saethre-Chotzen syndrome (ANB: β = –1.76, p = 0.001; and PC1: p < 0.001), and TCF12-related craniosynostosis (ANB: β = –1.70, p = 0.015; and PC1: p < 0.033). Conclusions In this study, we showed that the midface is hypoplastic in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis compared to the Dutch control group. Furthermore, the rotation of the maxilla and the typical craniofacial buildup is significantly different in these three craniosynostosis syndromes compared to the controls. Clinical relevance The maxillary growth in patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis is impaired, leading to a deviant dental development. Therefore, timely orthodontic follow-up is recommended. In order to increase expertise and support treatment planning by medical and dental specialists for these patients, and also because of the specific differences between the syndromes, we recommend the management of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis in specialized multidisciplinary teams.

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