DOCSLIB.ORG

Abnormal Skeletal Phenotypes

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Abnormal Skeletal Phenotypes Abnormal Skeletal Phenotypes From Simple Signs to Complex Diagnoses Bearbeitet von Alessandro Castriota-Scanderbeg, Bruno Dallapiccola 1. Auflage 2005. Buch. xiv, 962 S. Hardcover ISBN 978 3 540 67997 4 Format (B x L): 19,3 x 26 cm Gewicht: 2237 g Weitere Fachgebiete > Medizin > Human-Medizin, Gesundheitswesen > Medizinische Diagnostik, DRG-Konzept , Gutachten schnell und portofrei erhältlich bei Die Online-Fachbuchhandlung beck-shop.de ist spezialisiert auf Fachbücher, insbesondere Recht, Steuern und Wirtschaft. Im Sortiment finden Sie alle Medien (Bücher, Zeitschriften, CDs, eBooks, etc.) aller Verlage. Ergänzt wird das Programm durch Services wie Neuerscheinungsdienst oder Zusammenstellungen von Büchern zu Sonderpreisen. Der Shop führt mehr als 8 Millionen Produkte. Content Chapter 2 Part I Thorax . 111 A. Castriota-Scanderbeg Chapter 1 Abnormal Shape or Size of the Chest . 112 Skull . 3 Small Thorax . 112 A. Castriota-Scanderbeg Pectus Excavatum . 118 Pectus Carinatum . 121 Abnormalities of the Shape and/or Size Rib Abnormalities . 124 of the Skull . 5 Short Ribs . 124 Microcephaly . 5 Eleven Pairs of Ribs . 125 Macrocephaly . 11 Supernumerary Ribs . 127 Craniosynostosis . 19 Slender, Thin, or Twisted Ribs . 129 Abnormalities of Cranial Development Wide or Thickened Ribs . 132 and Ossification . 32 Rib Notching . 136 Calvarial Ossification Defects . 32 Defects in Segmentation . 137 Delayed Closure and/or Incomplete Flared or Cupped Ribs . 140 Ossification of Sutures and Fontanels . 41 Rib Gap . 143 Wormian Bones . 46 Clavicular Abnormalities . 144 Skull Thickening . 53 Aplasia and Hypoplasia . 144 Abnormalities of the Skull Base . 64 Slender Clavicles . 148 Abnormalities of the Sella Turcica . 65 Wide or Thickened Clavicles . 150 Abnormalities of the Foramen Magnum . 69 Clavicles with Lateral Hooks . 154 Basilar Impression . 72 Scapular Abnormalities . 156 Abnormalities of the Facial Bones Sternal Abnormalities . 162 and Sinonasal Cavities . 75 Abnormalities of Orbital Size . 75 Orbital Hypotelorism . 78 Chapter 3 Orbital Hypertelorism . 80 Choanal Atresia . 83 Spine . 167 Facial Clefts . 85 A. Castriota-Scanderbeg Small Sinuses . 89 Abnormalities of the Mandible . 91 Abnormal Shape or Size of Vertebrae . 167 Micrognathia . 91 Tall Ver tebrae . 168 Prognathism . 98 Beaked Vertebrae . 170 Intracranial Calcification . 100 Scalloping of the Vertebral Body . 172 Platyspondyly . 174 Hemivertebrae . 184 Block Vertebrae . 190 Coronal Cleft Vertebrae . 195 Absent or Minimal Vertebral Ossification . 199 Odontoid Hypoplasia/Aplasia . 202 Sacral Agenesis . 207 XII Content Defects of Spinal Alignment . 210 Abnormalities of the Long Bones Scoliosis and Kyphosis . 210 in the Lower Extremities . 314 Abnormalities of the Spinal Canal . 218 Genu Varum . 314 Narrow Spinal Canal . 218 Genu Valgum . 316 Wide Spinal Canal . 223 Proximal Femoral Focal Dysplasia . 318 Atlanto-axial Instability . 226 Tibial Bowing . 320 Disc Calcification . 230 Tibial Hemimelia . 323 Fibular Hemimelia . 324 Patellar Hypoplasia, Aplasia, Dysplasia, Chapter 4 and Dislocation . 326 Pelvis . 233 Epiphyseal Abnormalities . 330 A. Castriota-Scanderbeg Stippled Epiphyses. 330 Hypoplastic, Dysplastic, Abnormal Shape or Size of Ilia, Ischia, Dysgenetic Epiphyses . 333 and Pubic Bones . 233 Large Epiphyses . 337 Small, Hypoplastic Pelvis . 234 Aseptic Necrosis . 339 Flared Iliac Wings . 240 Metaphyseal Abnormalities . 343 Small Sciatic Notches . 243 Broad Metaphyses . 343 Iliac Crest Serration . 244 Metaphyseal Cupping . 346 Wide Interpubic Distance . 246 Metaphyseal Spurs . 350 Acetabular Abnormalities . 248 Metaphyseal Bands . 352 Small Acetabular Angle . 249 Irregular Metaphyses . 356 Protrusio Acetabuli . 250 Abnormalities of the Femoral Head and Neck . 253 Slipped Capital Femoral Epiphysis . 254 Chapter 6 Coxa Vara . 257 Hands . 361 Coxa Valga . 260 A. Castriota-Scanderbeg, Early Ossification of the Femoral Head . 263 B. Dallapiccola Hypoplasia/Aplasia, Irregularities, Fragmentation Shortening or Absence of Components of the Femoral Head . 263 of the Hands . 364 Hip Subluxation and Dislocation . 268 Brachytelephalangy . 365 Brachymesophalangy . 368 Brachyproxiphalangy . 372 Chapter 5 Brachymetacarpalia . 373 Radial Ray Deficiency . 379 Long Bones . 273 A. Castriota-Scanderbeg Ulnar-Ray Deficiency . 383 Central Ray Deficiency . 386 Abnormalities of the Shape Ter minal Transverse Defect . 390 and Contour of the Long Bones . 274 Other Anomalies of the Hand . 394 Broad Tubular Bones . 274 Preaxial Polydactyly . 394 Slender Tubular Bones . 277 Postaxial Polydactyly . 396 Bowed Tubular Bones . 280 Syndactyly . 399 Cortical Thickening . 291 Symphalangism . 404 Cortical Thinning . 299 Clinodactyly . 407 Limb Shortening . 302 Camptodactyly . 410 Rhizomelic Limb Shortening . 302 Angel-shaped Phalanges . 414 Mesomelic Limb Shortening . 305 Macrodactyly . 416 Abnormalities of the Long Bones Arachnodactyly . 419 in the Upper Extremities . 307 Epiphyseal Abnormalities . 422 Radioulnar Synostosis . 308 Cone-shaped Epiphyses . 422 Humeroradial and Humeroulnar Synostosis 311 Pseudoepiphyses . 426 Madelung Deformity. 313 Ivory Epiphyses . 428 Content XIII Carpal Abnormalities . 429 Carpal Angle Abnormalities . 430 Part II Supernumerary Carpal Bones . 432 Carpal Synostosis . 434 A. Castriota-Scanderbeg, B. Dallapiccola Thumb Abnormalities . 437 Thumb Hypoplasia/Aplasia . 437 Triphalangeal Thumb . 441 1Aarskog Syndrome . 576 Thumb Polydactyly . 445 2Achondrogenesis,Type IB. 579 Acro-osteolyses . 446 3Achondrogenesis,Type II . 581 Acro-osteolysis, Phalangeal Type . 447 4Achondroplasia . 582 Acro-osteolysis, Carpotarsal Type . 451 5Acrofacial Dysostosis, Nager Type . 588 6Angelman Syndrome . 591 7Apert Syndrome . 593 Chapter 7 8Asphyxiating Thoracic Dysplasia . 597 9Atelosteogenesis. 599 Feet . 455 10 Bardet-Biedl Syndrome . 605 A. Castriota-Scanderbeg 11 Beckwith-Wiedemann Syndrome . 607 Clubfoot and Other Foot Deformities . 456 12 C Syndrome . 609 Clubfoot/Metatarsus Adductus . 459 13 Campomelic Dysplasia . 611 Ver t ical Talus . 463 14 Carpenter Syndrome . 614 Tarsal Abnormalities . 466 15 Cerebro-costo-mandibular Syndrome . 616 Tarsal Sy nostosis . 466 16 CHARGE Association . 618 Multiple Calcaneal Ossification Centers . 470 17 Chondrodysplasia Punctata, Conradi-Hünermann Type . 619 18 Chondrodysplasia Punctata, Chapter 8 Rhizomelic Form . 621 19 Chondrodysplasia Punctata, Joints . 473 Brachytelephalangic Type . 625 A. Castriota-Scanderbeg 20 Chondroectodermal Dysplasia . 627 Abnormalities of Joint Motion . 473 21 Chromosome 4p– Syndrome . 630 Joint Contracture, Joint Stiffness . 473 22 Chromosome Trisomy 13 Syndrome . 632 Ankylosis . 481 23 Chromosome Trisomy 18 Syndrome . 638 Joint Laxity, Joint Hypermobility . 485 24 Chromosome Trisomy 21 Syndrome . 642 Abnormalities of Joint Position . 489 25 Cleidocranial Dysplasia . 648 Joint Subluxation and Dislocation . 490 26 Cockayne Syndrome . 654 Premature Degenerative Joint Disease . 496 27 Coffin-Lowry Syndrome . 657 28 Coffin-Siris Syndrome . 659 29 Cohen Syndrome . 662 Chapter 9 30 Craniometaphyseal Dysplasia, Dominant Type . 664 Generalized Skeletal Abnormalities . 501 A. Castriota-Scanderbeg 31 Cri-du-chat Syndrome . 667 32 Crouzon Syndrome . ..
Load more

Recommended publications
  • Genu Varum and Genu Valgum Genu Varum and Genu Valgum
    Common Pediatric Lower Limb Disorders Dr.Kholoud Al-Zain Assistant Professor Consultant, Pediatric Orthopedic Surgeon Nov- 2018 Acknowledgement: Dr.Abdalmonem Alsiddiky Dr.Khalid Bakarman Prof. M. Zamzam Topics to Cover 1. In-toeing 2. Genu (varus & valgus), & proximal tibia vara 3. Club foot 4. L.L deformities in C.P patients 5. Limping & leg length inequality 6. Leg aches 1) Intoeing Intoeing- Evaluation • Detailed history – Onset, who noticed it, progression – Fall a lot – How sits on the ground • Screening examination (head to toe) • Pathology at the level of: – Femoral anteversion – Tibial torsion – Forefoot adduction – Wandering big toe Intoeing- Asses rotational profile Pathology Level Special Test • Femoral anteversion • Hips rotational profile: – Supine – Prone • Tibial torsion • Inter-malleolus axis: – Supine – Prone • Foot thigh axis • Forefoot adduction • Heel bisector line • Wandering big toe Intoeing- Special Test Foot Propagation Angle → normal is (-10°) to (+15°) Intoeing- Femoral Anteversion Hips rotational profile, supine → IR/ER normal = 40-45/45-50° Intoeing- Tibial Torsion Inter-malleolus axis Supine position Sitting position Intoeing- Tibial Torsion Foot Thigh Axis → normal (0°) to (-10°) Intoeing- Forefoot Adduction Heel bisector line → normal along 2 toe Intoeing- Adducted Big Toe Intoeing- Treatment • Establish correct diagnosis • Parents education • Annual clinic F/U → asses degree of deformity • Femoral anti-version → sit cross legged • Tibial torsion → spontaneous improvement • Forefoot adduction → anti-version
    [Show full text]
  • Pierre Robin and the Syndrome That Bears His Name PETER RANDALL
    Pierre Robin and the Syndrome That Bears His Name PETER RANDALL, M.D. WILTON M. KROGMAN, Ph.D. SOONA JAHINA, B.D.S., M.Sc. Philadelphia, Pennsylvania The Pierre Robin Syndrome refers to a combination of micrognathia (a small jaw) and glossoptosis (literally, a falling downward or back- ward of the tongue) in the newborn infant (Figure 1). These conditions are likely to cause obstruction of the upper airway, and they are fre- quently associated with an incomplete cleft of the palate. Patients with the Pierre Robin Syndrome may present a real emer- gency in the delivery room because of the obstructed upper airway, or the airway problem may not become manifest for several days or weeks (10, 11, 38). There is frequently a feeding problem, as well as problems associated with the cleft of the palate (if one is present) and also an unusual malocclusion (2, 5, 12, 16). In addition, it presents a fascinating anthropological puzzle (22, 23). This paper will review the work of Dr. Robin, consider some possible etiologies of this syndrome, and report on some work on mandibular bone growth in a group of such patients. History Pierre Robin was far from the first person to recognize this syndrome. One account is recorded in 1822 by St. Hilaire. In 1891 Taruffi men- tioned two subclassifications-hypomicrognatus (small jaw) and hypo- agnathus (absent jaw). In 1891, four cases, two of them having cleft palates, were reported by Lanneloague and Monard (12, 14). Shukow- sky in 1902 described a tongue to lip surgical adhesion to overcome the respiratory obstruction (34).
    [Show full text]
  • A Molecular and Genetic Analysis of Otosclerosis
    A molecular and genetic analysis of otosclerosis Joanna Lauren Ziff Submitted for the degree of PhD University College London January 2014 1 Declaration I, Joanna Ziff, confirm that the work presented in this thesis is my own. Where information has been derived from other sources, I confirm that this has been indicated in the thesis. Where work has been conducted by other members of our laboratory, this has been indicated by an appropriate reference. 2 Abstract Otosclerosis is a common form of conductive hearing loss. It is characterised by abnormal bone remodelling within the otic capsule, leading to formation of sclerotic lesions of the temporal bone. Encroachment of these lesions on to the footplate of the stapes in the middle ear leads to stapes fixation and subsequent conductive hearing loss. The hereditary nature of otosclerosis has long been recognised due to its recurrence within families, but its genetic aetiology is yet to be characterised. Although many familial linkage studies and candidate gene association studies to investigate the genetic nature of otosclerosis have been performed in recent years, progress in identifying disease causing genes has been slow. This is largely due to the highly heterogeneous nature of this condition. The research presented in this thesis examines the molecular and genetic basis of otosclerosis using two next generation sequencing technologies; RNA-sequencing and Whole Exome Sequencing. RNA–sequencing has provided human stapes transcriptomes for healthy and diseased stapes, and in combination with pathway analysis has helped identify genes and molecular processes dysregulated in otosclerotic tissue. Whole Exome Sequencing has been employed to investigate rare variants that segregate with otosclerosis in affected families, and has been followed by a variant filtering strategy, which has prioritised genes found to be dysregulated during RNA-sequencing.
    [Show full text]
  • Saethre-Chotzen Syndrome
    Saethre-Chotzen syndrome Authors: Professor L. Clauser1 and Doctor M. Galié Creation Date: June 2002 Update: July 2004 Scientific Editor: Professor Raoul CM. Hennekam 1Department of craniomaxillofacial surgery, St. Anna Hospital and University, Corso Giovecca, 203, 44100 Ferrara, Italy. [email protected] Abstract Keywords Disease name and synonyms Excluded diseases Definition Prevalence Management including treatment Etiology Diagnostic methods Genetic counseling Antenatal diagnosis Unresolved questions References Abstract Saethre-Chotzen Syndrome (SCS) is an inherited craniosynostotic condition, with both premature fusion of cranial sutures (craniostenosis) and limb abnormalities. The most common clinical features, present in more than a third of patients, consist of coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. The estimated birth incidence is 1/25,000 to 1/50,000 but because the phenotype can be very mild, the entity is likely to be underdiagnosed. SCS is inherited as an autosomal dominant trait with a high penetrance and variable expression. The TWIST gene located at chromosome 7p21-p22, is responsible for SCS and encodes a transcription factor regulating head mesenchyme cell development during cranial tube formation. Some patients with an overlapping SCS phenotype have mutations in the FGFR3 (fibroblast growth factor receptor 3) gene; especially the Pro250Arg mutation in FGFR3 (Muenke syndrome) can resemble SCS to a great extent. Significant intrafamilial
    [Show full text]
  • MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002
    MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002 Michigan Department of Community Health Community Public Health Agency and Center for Health Statistics 3423 N. Martin Luther King Jr. Blvd. P. O. Box 30691 Lansing, Michigan 48909 Michigan Department of Community Health James K. Haveman, Jr., Director B-274a (March, 2002) Authority: P.A. 236 of 1988 BIRTH DEFECTS REGISTRY MICHIGAN DEPARTMENT OF COMMUNITY HEALTH BIRTH DEFECTS REGISTRY STAFF The Michigan Birth Defects Registry staff prepared this manual to provide the information needed to submit reports. The manual contains copies of the legislation mandating the Registry, the Rules for reporting birth defects, information about reportable and non reportable birth defects, and methods of reporting. Changes in the manual will be sent to each hospital contact to assist in complete and accurate reporting. We are interested in your comments about the manual and any suggestions about information you would like to receive. The Michigan Birth Defects Registry is located in the Office of the State Registrar and Division of Health Statistics. Registry staff can be reached at the following address: Michigan Birth Defects Registry 3423 N. Martin Luther King Jr. Blvd. P.O. Box 30691 Lansing MI 48909 Telephone number (517) 335-8678 FAX (517) 335-9513 FOR ASSISTANCE WITH SPECIFIC QUESTIONS PLEASE CONTACT Glenn E. Copeland (517) 335-8677 Cytogenetics Laboratory Reporting Instructions I. INTRODUCTION This manual provides detailed instructions on the proper reporting of diagnosed birth defects by cytogenetics laboratories. A report is required from cytogenetics laboratories whenever a reportable condition is diagnosed for patients under the age of two years.
    [Show full text]
  • Peds Ortho: What Is Normal, What Is Not, and When to Refer
    Peds Ortho: What is normal, what is not, and when to refer Future of Pedatrics June 10, 2015 Matthew E. Oetgen Benjamin D. Martin Division of Orthopaedic Surgery AGENDA • Definitions • Lower Extremity Deformity • Spinal Alignment • Back Pain LOWER EXTREMITY ALIGNMENT DEFINITIONS coxa = hip genu = knee cubitus = elbow pes = foot varus valgus “bow-legged” “knock-knee” apex away from midline apex toward midline normal varus hip (coxa vara) varus humerus valgus ankle valgus hip (coxa valga) Genu varum (bow-legged) Genu valgum (knock knee) bow legs and in toeing often together Normal Limb alignment NORMAL < 2 yo physiologic = reassurance, reevaluate @ 2 yo Bow legged 7° knock knee normal Knock knee physiologic = reassurance, reevaluate in future 4 yo abnormal 10 13 yo abnormal + pain 11 Follow-up is essential! 12 Intoeing 1. Femoral anteversion 2. Tibial torsion 3. Metatarsus adductus MOST LIKELY PHYSIOLOGIC AND WILL RESOLVE! BRACES ARE HISTORY! Femoral Anteversion “W” sitters Internal rotation >> External rotation knee caps point in MOST LIKELY PHYSIOLOGIC AND MAY RESOLVE! Internal Tibial Torsion Thigh foot angle MOST LIKELY PHYSIOLOGIC AND WILL RESOLVE BY SCHOOL AGE Foot is rotated inward Internal Tibial Torsion (Fuchs 1996) Metatarsus Adductus • Flexible = correctible • Observe vs. casting CURVED LATERAL BORDER toes point in NOT TO BE CONFUSED WITH… Clubfoot talipes equinovarus adductus internal varus rotation equinus CAN’T DORSIFLEX cavus Clubfoot START19 CASTING JUST AFTER BIRTH Calcaneovalgus Foot • Intrauterine positioning • Resolve
    [Show full text]
  • SKELETAL DYSPLASIA Dr Vasu Pai
    SKELETAL DYSPLASIA Dr Vasu Pai Skeletal dysplasia are the result of a defective growth and development of the skeleton. Dysplastic conditions are suspected on the basis of abnormal stature, disproportion, dysmorphism, or deformity. Diagnosis requires Simple measurement of height and calculation of proportionality [<60 inches: consideration of dysplasia is appropriate] Dysmorphic features of the face, hands, feet or deformity A complete physical examination Radiographs: Extremities and spine, skull, Pelvis, Hand Genetics: the risk of the recurrence of the condition in the family; Family evaluation. Dwarf: Proportional: constitutional or endocrine or malnutrition Disproportion [Trunk: Extremity] a. Height < 42” Diastrophic Dwarfism < 48” Achondroplasia 52” Hypochondroplasia b. Trunk-extremity ratio May have a normal trunk and short limbs (achondroplasia), Short trunk and limbs of normal length (e.g., spondylo-epiphyseal dysplasia tarda) Long trunk and long limbs (e.g., Marfan’s syndrome). c. Limb-segment ratio Normal: Radius-Humerus ratio 75% Tibia-Femur 82% Rhizomelia [short proximal segments as in Achondroplastics] Mesomelia: Dynschondrosteosis] Acromelia [short hands and feet] RUBIN CLASSIFICATION 1. Hypoplastic epiphysis ACHONDROPLASTIC Autosomal Dominant: 80%; 0.5-1.5/10000 births Most common disproportionate dwarfism. Prenatal diagnosis: 18 weeks by measuring femoral and humeral lengths. Abnormal endochondral bone formation: zone of hypertrophy. Gene defect FGFR fibroblast growth factor receptor 3 . chromosome 4 Rhizomelic pattern, with the humerus and femur affected more than the distal extremities; Facies: Frontal bossing; Macrocephaly; Saddle nose Maxillary hypoplasia, Mandibular prognathism Spine: Lumbar lordosis and Thoracolumbar kyphosis Progressive genu varum and coxa valga Wedge shaped gaps between 3rd and 4th fingers (trident hands) Trident hand 50%, joint laxity Pathology Lack of columnation Bony plate from lack of growth Disorganized metaphysis Orthopaedics 1.
    [Show full text]
  • Prevalence and Incidence of Rare Diseases: Bibliographic Data
    Number 1 | January 2019 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org If a range of national data is available, the average is Methodology calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most Orphanet carries out a systematic survey of literature in recent data source that meets a certain number of quality order to estimate the prevalence and incidence of rare criteria is favoured (registries, meta-analyses, diseases. This study aims to collect new data regarding population-based studies, large cohorts studies). point prevalence, birth prevalence and incidence, and to update already published data according to new For congenital diseases, the prevalence is estimated, so scientific studies or other available data. that: Prevalence = birth prevalence x (patient life This data is presented in the following reports published expectancy/general population life expectancy). biannually: When only incidence data is documented, the prevalence is estimated when possible, so that : • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Prevalence = incidence x disease mean duration. • Diseases listed by decreasing prevalence, incidence When neither prevalence nor incidence data is available, or number of published cases; which is the case for very rare diseases, the number of cases or families documented in the medical literature is Data collection provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to • National/international health institutes and agencies be absolutely correct.
    [Show full text]
  • Nuclear Envelope Laminopathies: Evidence for Developmentally Inappropriate Nuclear Envelope-Chromatin Associations
    Nuclear Envelope Laminopathies: Evidence for Developmentally Inappropriate Nuclear Envelope-Chromatin Associations by Jelena Perovanovic M.S. in Molecular Biology and Physiology, September 2009, University of Belgrade M.Phil. in Molecular Medicine, August 2013, The George Washington University A Dissertation submitted to The Faculty of The Columbian College of Arts and Sciences of The George Washington University in partial fulfillment of the requirements for the degree of Doctor of Philosophy August 31, 2015 Dissertation directed by Eric P. Hoffman Professor of Integrative Systems Biology The Columbian College of Arts and Sciences of The George Washington University certifies that Jelena Perovanovic has passed the Final Examination for the degree of Doctor of Philosophy as of May 5, 2015. This is the final and approved form of the dissertation. Nuclear Envelope Laminopathies: Evidence for Developmentally Inappropriate Nuclear Envelope-Chromatin Associations Jelena Perovanovic Dissertation Research Committee: Eric P. Hoffman, Professor of Integrative Systems Biology, Dissertation Director Anamaris Colberg-Poley, Professor of Integrative Systems Biology, Committee Member Robert J. Freishtat, Associate Professor of Pediatrics, Committee Member Vittorio Sartorelli, Senior Investigator, National Institutes of Health, Committee Member ii © Copyright 2015 by Jelena Perovanovic All rights reserved iii Acknowledgments I am deeply indebted to countless individuals for their support and encouragement during the past five years of graduate studies. First and foremost, I would like to express my gratitude to my mentor, Dr. Eric P. Hoffman, for his unwavering support and guidance, and keen attention to my professional development. This Dissertation would not have been possible without the critical input he provided and the engaging environment he created.
    [Show full text]
  • Arthrogryposis Multiplex Congenita Part 1: Clinical and Electromyographic Aspects
    J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.35.4.425 on 1 August 1972. Downloaded from Journal ofNeurology, Neurosurgery, anid Psychiatry, 1972, 35, 425-434 Arthrogryposis multiplex congenita Part 1: Clinical and electromyographic aspects E. P. BHARUCHA, S. S. PANDYA, AND DARAB K. DASTUR From the Children's Orthopaedic Hospital, and the Neuropathology Unit, J.J. Group of Hospitals, Bombay-8, India SUMMARY Sixteen cases with arthrogryposis multiplex congenita were examined clinically and electromyographically; three of them were re-examined later. Joint deformities were present in all extremities in 13 of the cases; in eight there was some degree of mental retardation. In two cases, there was clinical and electromyographic evidence of a myopathic disorder. In the majority, the appearances of the shoulder-neck region suggested a developmental defect. At the same time, selective weakness of muscles innervated by C5-C6 segments suggested a neuropathic disturbance. EMG revealed, in eight of 13 cases, clear evidence of denervation of muscles, but without any regenerative activity. The non-progressive nature of this disorder and capacity for improvement in muscle bulk and power suggest that denervation alone cannot explain the process. Re-examination of three patients after two to three years revealed persistence of the major deformities and muscle Protected by copyright. weakness noted earlier, with no appreciable deterioration. Otto (1841) appears to have been the first to ventricles, have been described (Adams, Denny- recognize this condition. Decades later, Magnus Brown, and Pearson, 1953; Fowler, 1959), in (1903) described it as multiple congenital con- addition to the spinal cord changes.
    [Show full text]
  • Bilateral Both Bone Leg Fracture in a Case of Hereditary Multiple Exostoses with Bilateral Proximal and Distal Tibiofibular Synostosis
    JMSCR Volume||2 ||Issue||5||Pages 1054-1058||May 2014 2014 www.jmscr.igmpublication.org Impact Factor-1.1147 ISSN (e)-2347-176x Bilateral Both Bone Leg Fracture in a Case of Hereditary Multiple Exostoses with Bilateral Proximal and Distal Tibiofibular Synostosis Authors Ganesh Singh1, Anshuman Vijay Roy2, Shailendra Singh Bhandari3, Pankaj Singh4 Author / Corresponding author Dr . Ganesh Singh M.S. (Orthopaedics) Assistant Professor , Department of Orthopaedics Room # 25 , New Resident Hostel , Medical Campus Government Medical College , Haldwani ( Uttarakhand ) . PIN -263139 Mobile no – 91-9319616456 , E mail – [email protected] Co –Authors Dr . Anshuman Vijay Roy M.S. (Orthopaedics ) Assistant Professor , Department of Orthopaedics Government Medical College , Haldwani ( Uttarakhand ). PIN – 263139 Mobile no. – 91-9927973777 E mail - [email protected] Dr Shailendra Singh Bhandari M.S.(Orthopaedics) Associatet Professor , Department of Orthopaedics Government Medical College , Haldwani ( Uttarakhand ). PIN – 263139 Mobile no. – 91-9837251168 E mail – [email protected] Dr . Pankaj Singh M.S. (Orthopaedics ) Professor , Department ofOrthopaedics Government Medical College , Haldwani ( Uttarakhand ). PIN – 263139 Mobile no. – 91-9927973777 E mail – [email protected] Ganesh Singh et al JMSCR Volume 2 Issue 5 May 2014 Page 1054 JMSCR Volume||2 ||Issue||5||Pages 1054-1058||May 2014 2014 Abstract The Hereditary Multiple Exostoses ( HME) is a neoplastic disorder affecting multiple skeletal sites in the form of bony protuberances of varying sizes and shapes . The clinical features are site specific and mostly relate to the effect of swelling on the adjacent tissues . Associated abnormalities like bowing deformities of bones, shortening and mechanical axes deviations may lead to increased risk of stresses over the bones .
    [Show full text]
  • Unilateral Proximal Focal Femoral Deficiency, Fibular Aplasia, Tibial
    The Egyptian Journal of Medical Human Genetics (2014) 15, 299–303 Ain Shams University The Egyptian Journal of Medical Human Genetics www.ejmhg.eg.net www.sciencedirect.com CASE REPORT Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome Rabah M. Shawky a,*, Heba Salah Abd Elkhalek a, Shaimaa Gad a, Shaimaa Abdelsattar Mohammad b a Pediatric Department, Genetics Unit, Ain Shams University, Egypt b Radio Diagnosis Department, Ain Shams University, Egypt Received 2 March 2014; accepted 18 March 2014 Available online 30 April 2014 KEYWORDS Abstract We report a fifteen month old Egyptian male child, the third in order of birth of healthy Short femur; non consanguineous parents, who has normal mentality, normal upper limbs and left lower limb. Limb anomaly; The right lower limb has short femur, and tibia with anterior bowing, and an overlying skin dimple. FFU syndrome; The right foot has also oligosyndactyly (three toes), and the foot is in vulgus position. There is lim- Proximal focal femoral ited abduction at the hip joint, full flexion and extension at the knee, limited dorsiflexion and plan- deficiency; tar flexion at the ankle joint. The X-ray of the lower limb and pelvis shows proximal focal femoral Fibular aplasia; deficiency, absent right fibula with shortening of the right tibia and anterior bowing of its distal Tibial campomelia; third. The acetabulum is shallow. He has a family history of congenital cyanotic heart disease. Oligosyndactyly Our patient represents most probably the first case of femur fibula ulna syndrome (FFU) in Egypt with unilateral right leg affection.
    [Show full text]