Diagnosing and Treating Deformational Plagiocephaly
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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. -
The Genetic Heterogeneity of Brachydactyly Type A1: Identifying the Molecular Pathways
The genetic heterogeneity of brachydactyly type A1: Identifying the molecular pathways Lemuel Jean Racacho Thesis submitted to the Faculty of Graduate Studies and Postdoctoral Studies in partial fulfillment of the requirements for the Doctorate in Philosophy degree in Biochemistry Specialization in Human and Molecular Genetics Department of Biochemistry, Microbiology and Immunology Faculty of Medicine University of Ottawa © Lemuel Jean Racacho, Ottawa, Canada, 2015 Abstract Brachydactyly type A1 (BDA1) is a rare autosomal dominant trait characterized by the shortening of the middle phalanges of digits 2-5 and of the proximal phalange of digit 1 in both hands and feet. Many of the brachymesophalangies including BDA1 have been associated with genetic perturbations along the BMP-SMAD signaling pathway. The goal of this thesis is to identify the molecular pathways that are associated with the BDA1 phenotype through the genetic assessment of BDA1-affected families. We identified four missense mutations that are clustered with other reported BDA1 mutations in the central region of the N-terminal signaling peptide of IHH. We also identified a missense mutation in GDF5 cosegregating with a semi-dominant form of BDA1. In two families we reported two novel BDA1-associated sequence variants in BMPR1B, the gene which codes for the receptor of GDF5. In 2002, we reported a BDA1 trait linked to chromosome 5p13.3 in a Canadian kindred (BDA1B; MIM %607004) but we did not discover a BDA1-causal variant in any of the protein coding genes within the 2.8 Mb critical region. To provide a higher sensitivity of detection, we performed a targeted enrichment of the BDA1B locus followed by high-throughput sequencing. -
Genetics of Congenital Hand Anomalies
G. C. Schwabe1 S. Mundlos2 Genetics of Congenital Hand Anomalies Die Genetik angeborener Handfehlbildungen Original Article Abstract Zusammenfassung Congenital limb malformations exhibit a wide spectrum of phe- Angeborene Handfehlbildungen sind durch ein breites Spektrum notypic manifestations and may occur as an isolated malforma- an phänotypischen Manifestationen gekennzeichnet. Sie treten tion and as part of a syndrome. They are individually rare, but als isolierte Malformation oder als Teil verschiedener Syndrome due to their overall frequency and severity they are of clinical auf. Die einzelnen Formen kongenitaler Handfehlbildungen sind relevance. In recent years, increasing knowledge of the molecu- selten, besitzen aber aufgrund ihrer Häufigkeit insgesamt und lar basis of embryonic development has significantly enhanced der hohen Belastung für Betroffene erhebliche klinische Rele- our understanding of congenital limb malformations. In addi- vanz. Die fortschreitende Erkenntnis über die molekularen Me- tion, genetic studies have revealed the molecular basis of an in- chanismen der Embryonalentwicklung haben in den letzten Jah- creasing number of conditions with primary or secondary limb ren wesentlich dazu beigetragen, die genetischen Ursachen kon- involvement. The molecular findings have led to a regrouping of genitaler Malformationen besser zu verstehen. Der hohe Grad an malformations in genetic terms. However, the establishment of phänotypischer Variabilität kongenitaler Handfehlbildungen er- precise genotype-phenotype correlations for limb malforma- schwert jedoch eine Etablierung präziser Genotyp-Phänotyp- tions is difficult due to the high degree of phenotypic variability. Korrelationen. In diesem Übersichtsartikel präsentieren wir das We present an overview of congenital limb malformations based Spektrum kongenitaler Malformationen, basierend auf einer ent- 85 on an anatomic and genetic concept reflecting recent molecular wicklungsbiologischen, anatomischen und genetischen Klassifi- and developmental insights. -
Orphanet Journal of Rare Diseases Biomed Central
Orphanet Journal of Rare Diseases BioMed Central Review Open Access Brachydactyly Samia A Temtamy* and Mona S Aglan Address: Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre (NRC), El-Buhouth St., Dokki, 12311, Cairo, Egypt Email: Samia A Temtamy* - [email protected]; Mona S Aglan - [email protected] * Corresponding author Published: 13 June 2008 Received: 4 April 2008 Accepted: 13 June 2008 Orphanet Journal of Rare Diseases 2008, 3:15 doi:10.1186/1750-1172-3-15 This article is available from: http://www.ojrd.com/content/3/1/15 © 2008 Temtamy and Aglan; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. -
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. -
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. -
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. -
Flat Foot II
726 S.-A. MEDIESE TYDSKRIF 3 Julie 1971 ligament below with interrupted black silk sutures. The sutures located at the most medial part also passed through the outer edge of the rectus sheath. The internal ring was reconstituted so that it was situated lateral to the external ring to ensure that the obliquity of the inguinal canal was maintained (Fig. I). In 1890, Bassini reported his experience with 262 con secutive cases who had had a hernia repaired according to the new method he described. Out of 251 cases where strangulation had not occurred, all survived the operation. The recurrence rate was less than 3% of those cases who had been followed up for between one month and four years. The operation described by Bassini has made a great impact on the surgery of inguinal herniae, and although many different procedures have been described, none has had a similar world-wide acceptance. The Bassini opera tion has withstood the test of time, and proof of its value lies in the fact that it is still used today by many surgeons in different parts of the globe. Fig. 1: Bassini's original description of herniorrhaphy. I wish to thank Professor J. M. Mynors and Mrs P. Ferguson (A) subcutaneous tissue, (B) external oblique, (C) fascia for assistance in preparing this paper, and Mr G. Davie, for transversalis, (E) spermatic cord, (F) transversus, internal the photograph. oblique and fascia transversus, (G) hernia sac. (From Bassini's (j ber die Behandlung des Leisten-bruches, REFERENCES Langenbecks Arch. klin. Chir., Vo\. 40.) 1. Celsus, 1st Century, AD (1938): De Medicine. -
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. -
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. -
Four Unusual Cases of Congenital Forelimb Malformations in Dogs
animals Article Four Unusual Cases of Congenital Forelimb Malformations in Dogs Simona Di Pietro 1 , Giuseppe Santi Rapisarda 2, Luca Cicero 3,* , Vito Angileri 4, Simona Morabito 5, Giovanni Cassata 3 and Francesco Macrì 1 1 Department of Veterinary Sciences, University of Messina, Viale Palatucci, 98168 Messina, Italy; [email protected] (S.D.P.); [email protected] (F.M.) 2 Department of Veterinary Prevention, Provincial Health Authority of Catania, 95030 Gravina di Catania, Italy; [email protected] 3 Institute Zooprofilattico Sperimentale of Sicily, Via G. Marinuzzi, 3, 90129 Palermo, Italy; [email protected] 4 Veterinary Practitioner, 91025 Marsala, Italy; [email protected] 5 Ospedale Veterinario I Portoni Rossi, Via Roma, 57/a, 40069 Zola Predosa (BO), Italy; [email protected] * Correspondence: [email protected] Simple Summary: Congenital limb defects are sporadically encountered in dogs during normal clinical practice. Literature concerning their diagnosis and management in canine species is poor. Sometimes, the diagnosis and description of congenital limb abnormalities are complicated by the concurrent presence of different malformations in the same limb and the lack of widely accepted classification schemes. In order to improve the knowledge about congenital limb anomalies in dogs, this report describes the clinical and radiographic findings in four dogs affected by unusual congenital forelimb defects, underlying also the importance of reviewing current terminology. Citation: Di Pietro, S.; Rapisarda, G.S.; Cicero, L.; Angileri, V.; Morabito, Abstract: Four dogs were presented with thoracic limb deformity. After clinical and radiographic S.; Cassata, G.; Macrì, F. Four Unusual examinations, a diagnosis of congenital malformations was performed for each of them.