A Guide to Understanding Craniosynostosis
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New Guidelines Review Evidence on PT, Helmets for Positional Plagiocephaly by Sandi K
Neurologic Disorders, Neurological Surgery, News Articles New guidelines review evidence on PT, helmets for positional plagiocephaly by Sandi K. Lam M.D., M.B.A., FACS; Thomas G. Luerssen M.D., FACS, FAAP Positional plagiocephaly is a common condition encountered by pediatricians and referred to pediatric subspecialty physicians such as neurosurgeons and plastic surgeons. About one in four U.S. infants has some degree of positional plagiocephaly. The incidence has increased since the Academy initiated the Back to Sleep campaign in 1994 to prevent sudden infant death syndrome. Due to practice variation in diagnosis and treatment paradigms for this common condition, the Joint Section on Pediatric Neurosurgery of the American Association of Neurological Surgeons and the Congress of Neurological Surgeons (CNS) sought to develop evidence-based management guidelines. A multidisciplinary task force conducted a systematic review of the literature from 1966 to October 2014 on pediatric plagiocephaly. Nearly 400 abstracts were reviewed yielding 110 articles for full review; 60 were deemed relevant. The task force made 10 recommendations pertaining to imaging diagnosis, repositioning, physical therapy and helmet orthoses. The guidelines are published in CNS' journal Neurosurgery and have been endorsed by the Academy. They are available at http://bit.ly/2d7NzS1. Definition of positional plagiocephaly In the guidelines, the term positional plagiocephaly encompasses both positional occipital plagiocephaly (unilateral flattening of parieto-occipital region, compensatory anterior shift of the ipsilateral ear, bulging of the ipsilateral forehead) and positional brachycephaly (symmetric flattening of the occiput, foreshortened anterior- posterior dimension of the skull, compensatory biparietal widening) and the combination of both of these deformities. -
Second Family with the Bostontype Craniosynostosis Syndrome: Novel Mutation and Expansion of the Clinical Spectrum
CLINICAL REPORT Second Family With the Boston-Type Craniosynostosis Syndrome: Novel Mutation and Expansion of the Clinical Spectrum Alexander Janssen,1 Mohammad J. Hosen,2 Philippe Jeannin,3 Paul J. Coucke,2 Anne De Paepe,2 and Olivier M. Vanakker2* 1Department of Neurosurgery, Ghent University Hospital, Ghent, Belgium 2Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium 3Department of Pediatrics, Jan Palfijn Hospital, Ghent, Belgium Manuscript Received: 11 January 2013; Manuscript Accepted: 3 May 2013 Craniosynostosis, caused by early fusion of one or more cranial sutures, can affect the coronal or lambdoid sutures, or include How to Cite this Article: premature fusion of the sagittal (scaphocephaly) or metopic Janssen A, Hosen MJ, Jeannin P, Coucke suture (trigonocephaly). Often occurring as isolated finding, PJ, De Paepe A, Vanakker OM. 2013. their co-existence in a craniosynostosis syndrome is infrequent. Second family with the Boston-type We describe a four-generation family with variable expression of craniosynostosis syndrome: Novel mutation a craniosynostosis phenotype with scaphocephaly and a partic- and expansion of the clinical spectrum. ularly severe trigonocephaly. Molecular analysis revealed a mis- sense mutation in the MSX2—associated with the Boston-type Am J Med Genet Part A 161A:2352–2357. craniosynostosis syndrome—affecting the same amino-acid res- idue as in the original Boston family. Besides unique features such as the cranial sutures involved, minor limb abnormalities isolated sagittal synostosis, accounting for more than half of all and incomplete penetrance, our patients share with the original reported cases. Premature fusion of the sagittal suture results in family autosomal dominant inheritance and the presence of decreased width and inverse elongation of the anteroposterior axis multiple endocranial erosions on CT imaging. -
Dysmorphology and Dysfunction in the Brain and Calvarial Vault of Nonsyndromic Craniosynostosis
Yale University EliScholar – A Digital Platform for Scholarly Publishing at Yale Yale Medicine Thesis Digital Library School of Medicine January 2013 Dysmorphology And Dysfunction In The rB ain And Calvarial Vault Of Nonsyndromic Craniosynostosis Joel Stanley Beckett Yale School of Medicine, [email protected] Follow this and additional works at: http://elischolar.library.yale.edu/ymtdl Recommended Citation Beckett, Joel Stanley, "Dysmorphology And Dysfunction In The rB ain And Calvarial Vault Of Nonsyndromic Craniosynostosis" (2013). Yale Medicine Thesis Digital Library. 1781. http://elischolar.library.yale.edu/ymtdl/1781 This Open Access Thesis is brought to you for free and open access by the School of Medicine at EliScholar – A Digital Platform for Scholarly Publishing at Yale. It has been accepted for inclusion in Yale Medicine Thesis Digital Library by an authorized administrator of EliScholar – A Digital Platform for Scholarly Publishing at Yale. For more information, please contact [email protected]. Dysmorphology and Dysfunction in the Brain and Calvarial Vault of Nonsyndromic Craniosynostosis Yale University School of Medicine in Partial Fulfillment of the Requirements for the Degree of Doctor of Medicine by Joel Stanley Beckett 2013 Abstract Craniosynostosis is a premature pathologic fusion of one or more sutures in the calvarial vault. The six calvarial sutures are growth sites between adjacent intramembranous bones, which allow for flexibility during passage through the birth canal and accommodation for the growing brain. (1) Premature fusion results in obvious cranial morphologic abnormality and can be associated with elevated intracranial pressure, visual dysfunction, mental retardation and various forms of subtler learning disability. (2) A category of disease called isolated nonsyndromic craniosynostosis (NSC) represents nearly 85% of cases. -
Endoscopy-Assisted Early Correction of Single-Suture Metopic Craniosynostosis: a 19-Year Experience
CLINICAL ARTICLE J Neurosurg Pediatr 23:61–74, 2019 Endoscopy-assisted early correction of single-suture metopic craniosynostosis: a 19-year experience David F. Jimenez, MD,1 Michael J. McGinity, MD,1 and Constance M. Barone, MD2 1Department of Neurosurgery, University of Texas Health San Antonio; and 2Cosmetic Surgery Center, San Antonio, Texas OBJECTIVE The objective of this study was to present the authors’ 19-year experience treating metopic craniosynos- tosis by using an endoscopy-assisted technique and postoperative cranial orthotic therapy. The authors also aimed to provide a comprehensive, comparative statistical analysis of minimally invasive surgery (MIS) versus open surgery in reports previously published in the literature (through 2014) regarding only patients with metopic synostosis. METHODS A total of 141 patients with single-suture metopic nonsyndromic craniosynostosis sutures were treated between 1998 and 2017 by endoscopically resecting the synostosed bone followed by postoperative custom cranial orthosis use. All data used in the case series were collected prospectively and stored in a secure database. A compre- hensive literature review was performed that included all previous case series reporting common surgical performance measures. A statistical comparison of traditional open methods versus MIS techniques was performed with regard to age, length of hospital stay (LOS), surgical time, estimated blood loss (EBL), and transfusion rate. RESULTS The mean age at the time of surgery in the current series was 4.1 months. The mean EBL was 33 ml (range 5–250 ml). One patient underwent an intraoperative blood transfusion and 5 underwent postoperative blood transfu- sion for a total transfusion rate of 4.3%. -
West Texas Craniofacial Center of Excellence
TEAM MEMBERS Tammy Camp, M.D. PAID PERMIT #68 LUBBOCK, TX LUBBOCK, U.S. POSTAGE POSTAGE U.S. NONPROFIT ORG Pediatrician, Texas Tech Physicians Desiree Pendergrass, M.D. Pediatrician Dr. Camp Dr. Camp and Dr. Pendergrass will screen infants and children for cardiac, renal, feeding or airway problems often associated with syndromic craniofacial deformities. Alan Eisenbaum, M.D. Pediatric ophthalmologist, Dr. Pendergrass Texas Tech Physicians Curt Cockings, M.D. Pediatric ophthalmologist Dr. Eisenbaum and Dr. Cockings will screen infants and children with abnormal head shapes for any evidence of optic disc swelling of papilledema Dr. Eisenbaum suggestive of elevated intracranial pressure. They will also screen for any visual loss secondary to optic neuropathy, amblyopia or exposure keratopathy as a results of small orbital volume in syndromic synostoses. APPOINTMENTS Dr. Demke sees patients at the Texas Tech Physicians Medical Pavilion in the Surgery Clinic. His clinic days are Tuesday and Thursday, 8 a.m. – 5 p.m. Please call (806)743-2373 for a referral. SURGERY Dr. Nagy sees patients at Covenant Women’s and Children’s Hospital on Tuesdays and Wednesdays 9am – 5pm weekly. For this clinic location, Lubbock, 79430 Texas please call (806) 743-7700 for a referral. He also sees patients at Texas Department Surgery of Tech Physicians Medical Pavilion, 3rd floor, on Mondays from 9am – 5pm 8312 – MS Street 4th 3601 weekly. For this clinic location, please call (806) 743-7335 for a referral. If a patient needs to see both Dr. Demke and Dr. Nagy, arrangements SURGERY will be made to see the patient on the same day. -
Blueprint Genetics Craniosynostosis Panel
Craniosynostosis Panel Test code: MA2901 Is a 38 gene panel that includes assessment of non-coding variants. Is ideal for patients with craniosynostosis. About Craniosynostosis Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape. It may result from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). Premature closure of the sutures (fibrous joints) causes the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome with a variety of inheritance patterns and reccurrence risks. Craniosynostosis occurs in 1/2,200 live births. Availability 4 weeks Gene Set Description Genes in the Craniosynostosis Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ALPL Odontohypophosphatasia, Hypophosphatasia perinatal lethal, AD/AR 78 291 infantile, juvenile and adult forms ALX3 Frontonasal dysplasia type 1 AR 8 8 ALX4 Frontonasal dysplasia type 2, Parietal foramina AD/AR 15 24 BMP4 Microphthalmia, syndromic, Orofacial cleft AD 8 39 CDC45 Meier-Gorlin syndrome 7 AR 10 19 EDNRB Hirschsprung disease, ABCD syndrome, Waardenburg syndrome AD/AR 12 66 EFNB1 Craniofrontonasal dysplasia XL 28 116 ERF Craniosynostosis 4 AD 17 16 ESCO2 SC phocomelia syndrome, Roberts syndrome -
Prenatal Ultrasonography of Craniofacial Abnormalities
Prenatal ultrasonography of craniofacial abnormalities Annisa Shui Lam Mak, Kwok Yin Leung Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong SAR, China REVIEW ARTICLE https://doi.org/10.14366/usg.18031 pISSN: 2288-5919 • eISSN: 2288-5943 Ultrasonography 2019;38:13-24 Craniofacial abnormalities are common. It is important to examine the fetal face and skull during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to the fetal Received: May 29, 2018 skull and face can increase the detection rate. When an abnormality is found, it is important Revised: June 30, 2018 to perform a detailed scan to determine its severity and search for additional abnormalities. Accepted: July 3, 2018 Correspondence to: The use of 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate and Kwok Yin Leung, MBBS, MD, FRCOG, craniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate, Cert HKCOG (MFM), Department of micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostic Obstetrics and Gynaecology, Queen Elizabeth Hospital, Gascoigne Road, techniques are indicated to exclude chromosomal abnormalities. Molecular analysis for some Kowloon, Hong Kong SAR, China syndromes is feasible if the family history is suggestive. Tel. +852-3506 6398 Fax. +852-2384 5834 E-mail: [email protected] Keywords: Craniofacial; Prenatal; Ultrasound; Three-dimensional ultrasonography; Fetal structural abnormalities This is an Open Access article distributed under the Introduction terms of the Creative Commons Attribution Non- Commercial License (http://creativecommons.org/ licenses/by-nc/3.0/) which permits unrestricted non- Craniofacial abnormalities are common. -
MR Imaging of Fetal Head and Neck Anomalies
Neuroimag Clin N Am 14 (2004) 273–291 MR imaging of fetal head and neck anomalies Caroline D. Robson, MB, ChBa,b,*, Carol E. Barnewolt, MDa,c aDepartment of Radiology, Children’s Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, MA 02115, USA bMagnetic Resonance Imaging, Advanced Fetal Care Center, Children’s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA cFetal Imaging, Advanced Fetal Care Center, Children’s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA Fetal dysmorphism can occur as a result of var- primarily used for fetal MR imaging. When the fetal ious processes that include malformation (anoma- face is imaged, the sagittal view permits assessment lous formation of tissue), deformation (unusual of the frontal and nasal bones, hard palate, tongue, forces on normal tissue), disruption (breakdown of and mandible. Abnormalities include abnormal promi- normal tissue), and dysplasia (abnormal organiza- nence of the frontal bone (frontal bossing) and lack of tion of tissue). the usual frontal prominence. Abnormal nasal mor- An approach to fetal diagnosis and counseling of phology includes variations in the size and shape of the parents incorporates a detailed assessment of fam- the nose. Macroglossia and micrognathia are also best ily history, maternal health, and serum screening, re- diagnosed on sagittal images. sults of amniotic fluid analysis for karyotype and Coronal images are useful for evaluating the in- other parameters, and thorough imaging of the fetus tegrity of the fetal lips and palate and provide as- with sonography and sometimes fetal MR imaging. sessment of the eyes, nose, and ears. -
Occipital Plagiocephaly: a Critical Review of the Literature
Occipital plagiocephaly: a critical review of the literature Harold L. Rekate, M.D. Pediatric Neurosurgery, Barrow Neurologic Institute, Phoenix, Arizona The objective of this review was to determine what information is available on the incidence, pathophysiology, late complications, and treatment paradigms for occipital plagiocephaly based on a critical review of the literature obtained from recognized databases in peer-reviewed scientific publications. The content of this article is based on a critical review of the literature, and when discussing treatment options, classification of those articles with respect to the strength of the recommendations they contain. Using standard computerized search techniques, databases containing medical literature were queried for key words related to occipital plagiocephaly beginning in 1966. Key words used for this search were: lambdoid, craniosynostosis, cranial sutures, facial asymmetry, torticollis, and plagiocephaly. Titles of all articles were scanned for relevance. Copies of all potentially relevant articles published in the English language were obtained and received at least a cursory review. Several articles not captured by these methods were found to be important when referenced in the articles obtained. Articles discussing treatment were divided into Class I, Class II, and Class III data for the purpose of deciding on their applicability to the development of a potential consensus for the treatment of this controversial condition. Using the aforementioned key words, there were 4308 articles identified with potential relevance: scanning by title excluded all but 89. Of the 89, those with on-line abstracts were scanned, the remainder were obtained via interlibrary loan when needed for scanning of the article itself. The actual incidence of occipital plagiocephaly is unknown and there are no population-based studies of its incidence or prevalence. -
Detailed Characterization Of, and Clinical Correlations In, 10 Patients
August 2008 ⅐ Vol. 10 ⅐ No. 8 article Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p Xueya Hauge, PhD1, Gordana Raca, PhD2, Sara Cooper, MS2, Kristin May, PhD3, Rhonda Spiro, MD4, Margaret Adam, MD2, and Christa Lese Martin, PhD2 Purpose: Deletions of distal 9p are associated with trigonocephaly, mental retardation, dysmorphic facial features, cardiac anomalies, and abnormal genitalia. Previous studies identified a proposed critical region for the consensus phenotype in band 9p23, between 11.8 Mb and 16 Mb from the 9p telomere. Here we report 10 new patients with 9p deletions; 9 patients have clinical features consistent with 9pϪ syndrome, but possess terminal deletions smaller than most reported cases, whereas one individual lacks the 9pϪ phenotype and shows a 140-kb interstitial telomeric deletion inherited from his mother. Methods: We combined fluorescence in situ hybridization and microarray analyses to delineate the size of each deletion. Results: The deletion sizes vary from 800 kb to 12.4 Mb in our patients with clinically relevant phenotypes. Clinical evaluation and comparison showed little difference in physical features with regard to the deletion sizes. Severe speech and language impairment were observed in all patients with clinically relevant phenotypes. Conclusion: The smallest deleted region common to our patients who demonstrate a phenotype consistent with 9pϪ is Ͻ2 Mb of 9pter, which contains six known genes. These genes may contribute to some of the cardinal features of 9p deletion syndrome. Genet Med 2008:10(8): 599–611. Key Words: 9p deletion, FISH, genotype-phenotype correlation, aCGH The 9p deletion syndrome is characterized by trigonoceph- points in 24 patients with visible 9p deletions and breakpoints aly, moderate to severe mental retardation, low-set, mal- at 9p22 or 9p23. -
Occipital Plagiocephaly: a Critical Review of the Literature
Occipital plagiocephaly: a critical review of the literature Harold L. Rekate, M.D. Pediatric Neurosurgery, Barrow Neurologic Institute, Phoenix, Arizona The objective of this review was to determine what information is available on the incidence, pathophysiology, late complications, and treatment paradigms for occipital plagiocephaly based on a critical review of the literature obtained from recognized databases in peer-reviewed scientific publications. The content of this article is based on a critical review of the literature, and when discussing treatment options, classification of those articles with respect to the strength of the recommendations they contain. Using standard computerized search techniques, databases containing medical literature were queried for key words related to occipital plagiocephaly beginning in 1966. Key words used for this search were: lambdoid, craniosynostosis, cranial sutures, facial asymmetry, torticollis, and plagiocephaly. Titles of all articles were scanned for relevance. Copies of all potentially relevant articles published in the English language were obtained and received at least a cursory review. Several articles not captured by these methods were found to be important when referenced in the articles obtained. Articles discussing treatment were divided into Class I, Class II, and Class III data for the purpose of deciding on their applicability to the development of a potential consensus for the treatment of this controversial condition. Using the aforementioned key words, there were 4308 articles identified with potential relevance: scanning by title excluded all but 89. Of the 89, those with on-line abstracts were scanned, the remainder were obtained via interlibrary loan when needed for scanning of the article itself. The actual incidence of occipital plagiocephaly is unknown and there are no population-based studies of its incidence or prevalence. -
Craniosynostosis Precision Panel Overview Indications Clinical Utility
Craniosynostosis Precision Panel Overview Craniosynostosis is defined as the premature fusion of one or more cranial sutures, often resulting in abnormal head shape. It is a developmental craniofacial anomaly resulting from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). As well, craniosynostosis can be simple when only one suture fuses prematurely or complex/compound when there is a premature fusion of multiple sutures. Complex craniosynostosis are usually associated with other body deformities. The main morbidity risk is the elevated intracranial pressure and subsequent brain damage. When left untreated, craniosynostosis can cause serious complications such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, eye anomalies and psychosocial disturbances. In approximately 85% of the cases, this disease is isolated and nonsyndromic. Syndromic craniosynostosis usually present with multiorgan complications. The Igenomix Craniosynostosis Precision Panel can be used to make a directed and accurate diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. Indications The Igenomix Craniosynostosis Precision Panel is indicated for those patients with a clinical diagnosis or suspicion with or without the following manifestations: ‐ Microcephaly ‐ Scaphocephaly (elongated head) ‐ Anterior plagiocephaly ‐ Brachycephaly ‐ Torticollis ‐ Frontal bossing Clinical Utility The clinical utility of this panel is: - The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. - Early initiation of treatment in the form surgical procedures to relieve fused sutures, midface advancement, limited phase of orthodontic treatment and combined 1 orthodontics/orthognathic surgery treatment.