DOCSLIB.ORG

25 Cleidocranial Dysplasia

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
25 Cleidocranial Dysplasia 648 Cleidocranial Dysplasia 25 Cleidocranial Dysplasia Cleidocranial dysostosis, CCD Radiographic Features Skull Persistently open skull sutures, brachycephaly, frontal/ • Brachycephaly, increased biparietal diameter, fron- parietal bossing, depressed nasal bridge, dental anom- tal bossing, bulging calvaria alies, increased shoulder movement/narrow shoulders • Delayed skull ossification, persistently opened su- tures (metopic, posterior occipital synchondrosis) Frequency: 0.5 per 100,000 births. and fontanels (until adulthood) • Multiple wormian bones Genetics • Hypoplasia of facial bones Autosomal dominant (OMIM 119600); the disease • Broad mandible, prognathism gene, CBFA1, which is essential for osteoblast differ- • Delay in deciduous and permanent dentition entiation, maps to 6p21. • Teeth irregularly placed, dental caries • High-arched palate Clinical Features • Underdeveloped sinuses and mastoids • Moderately short stature • Structural ossicular chain abnormalities • Large head, prominent frontal and parietal bones Chest (‘Arnold head’), wide sutures • Partial, less frequently total, aplasia of clavicles, • Midfacial hypoplasia, facial palsy mostly bilateral; clavicles most commonly defec- • Hypertelorism, broad nasal bridge tive in lateral and middle thirds; lack of fusion of • Delayed teeth eruption, persistence of primary lateral and medial segments of clavicles with a teeth, supernumerary teeth central gap • Drooping and hypermobile shoulders, hypoplas- • Narrow thorax, short ribs tic/aplastic clavicles • Small and deformed scapulae • Narrow thorax, respiratory distress • Eleven pairs of ribs • Brachydactyly • Pectus excavatum, under-/unossified sternum • Joint laxity Pelvis • Absence or delayed ossification of pubic bones (in Differential Diagnosis infancy) • Pyknodysostosis • Hypoplasia and anterior rotation of iliac wings, • Yunis-Varon syndrome hypoplastic acetabulum • Mandibuloacral dysplasia • Hip dislocation • Cleidorhizomelic dysplasia • Wide pubic symphysis (in adults), sacroiliac junc- • Crane-Haise syndrome tion, and Y-cartilage of the acetabulum • Parietal foramina with cleidocranial dysplasia • Cephalopelvic disproportion • Craniomandibular dermosynostosis • Pelvic-shoulder dysplasia • Scapuloiliac dysostosis Cleidocranial Dysplasia 649 Fig. 25.1 a,b. Patient 1, age 4 years. Note frontal and parietal bossing, ocular hypertelorism, and abnor- mal mobility of the shoulders. Note also funnel-shaped chest in b C ab Hands and Feet Bibliography • Brachydactyly • Multiple, large pseudoepiphyses of metacarpals Chitayat D, Hodgkinson KA, Azouz EM. Intrafamilial variabil- and metatarsals ity in cleidocranial dysplasia: a three generation family.Am • J Med Genet 1992; 42: 298–303 Relatively long 2nd and 5th metacarpals Jackson WPU. Osteo-dental-dysplasia (cleido-cranial dysosto- • Thin metacarpals and metatarsals sis). The “Arnold head.”Acta Med Scand 1951; 139: 292–307 • Short, dysplastic middle phalanx of the 5th finger Jarvis JL, Keats TE. Cleidocranial dysostosis. A review of 40 • Small, distally tapering terminal phalanges new cases. Am J Roentgenol Radium Ther Nucl Med 1974; • Cone-shaped epiphyses of phalanges of fingers 121: 5–16 Jensen BL, Kreiborg S. Development of the skull in infants with and toes cleidocranial dysplasia. J Craniofac Genet Dev Biol 1993; Extremities 13: 89–97 • Undermodeling of long bones, narrow shafts of Lee B,Thirunavukkarasu K,Zhou L,Pastore L,Baldini A,Hecht the tubular bones J, Geoffroy V,Ducy P,Karsenty G. Missense mutations abol- • Coxa valga or, less frequently, coxa vara ishing DNA binding of the osteoblast-specific transcription • factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet Deformed femoral head and neck 1997; 16: 307–10 • Shortness or absence of fibulae Mundlos S. Cleidocranial dysplasia: clinical and molecular ge- Spine netics. J Med Genet 1999; 36: 177–82 • Posterior wedging of thoracic vertebrae Mundlos S, Mulliken JB, Abramson DL, Warman ML, Knoll • Persistence of synchondrosis between vertebral JHM, Olsen BR. Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. Hum Mol bodies and neural arches Genet 1995; 4: 71–5 • Spina bifida Reed MH, Houston CS. Abnormal ossification of the hyoid • Kyphoscoliosis bone in cleidocranial dysplasia. Can Assoc Radiol J 1993; • Lumbar spondylolysis 44: 277–9 Generalized Bone Defects Seow WK, Hertzberg J. Dental development and molar root • length in children with cleidocranial dysplasia. Pediatr Delayed bone age Dent 1995; 17: 101–5 650 Cleidocranial Dysplasia ab c d Fig. 25.2. a, b Patient 1,age 4 years; c patient 2, age 12 years; d, e pa- tient 3, an adult: wormian bones in the cranial sutures, and widely opened anterior fontanel and metopic suture in all patients. The cranial transverse diameter is increased, and the facial bones are relatively hypoplastic. Note also lack of pneumatization of e sinuses and moderate basilar im- pression (e) Cleidocranial Dysplasia 651 Fig. 25.3. a Patient 1, age 4 years; right clavicle is missing, and left clavicle is markedly hypoplastic. Also observe lack of fusion of the neural arches of upper thoracic vertebrae, bell-shaped thorax, and dysplastic, anteverted sca- pulae. b Patient 4, adolescent; note central gap in right clavicle and mildly hypoplasia of left clav- icle, which has a straight course. C c Patient 3, adult; bilateral lack of osseous fusion between lateral and the medial two-thirds of the clavicles.Also note severe thoracic scoliosis a b c 652 Cleidocranial Dysplasia Fig. 25.4. a Patient 1, age 4 years. Note narrowing of ilia, with small acetabular angles, unossified pu- bic bones, wide sacroiliac junc- tions, wide open Y cartilages, and narrow sacrosciatic notches. b Patient 3, adult. Iliac wings are somewhat narrowed in their transverse diameter, sacroiliac junctions are wide, and pelvic in- let is small.Note incomplete ossifi- cation of pubic bones, short and valgus femoral necks, and per- sistent physeal lines of proximal femurs a b Cleidocranial Dysplasia 653 Fig. 25.5. Patient 3, adult. Note narrowing of midshaft of tibia and undermodeling of tibia and fibula C ab Fig. 25.6. a, b Patient 1, age 4 years. Note hypoplastic, distally pseudoepiphysis will result in relative elongation of the tapering distal phalanges, hypoplastic middle phalanges of metacarpal. Observe markedly retarded carpal bone ossifica- 2nd and 5th fingers, multiple cone-shaped epiphyses, and tion (corresponding to a chronological age of 1 year and pseudo-epiphysis at base of 2nd metacarpal. Fusion of the 6 months according to Greulich and Pyle).
Load more

Recommended publications
  • A Novel Locus for Brachydactyly Type A1 on Chromosome 5P13.3-P13.2 C M Armour, M E Mccready, a Baig,Agwhunter, D E Bulman
    186 LETTERS TO JMG J Med Genet: first published as 10.1136/jmg.39.3.189 on 1 March 2002. Downloaded from A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2 C M Armour, M E McCready, A Baig,AGWHunter, D E Bulman ............................................................................................................................. J Med Genet 2002;39:186–189 he brachydactylies are a group of inherited disorders METHODS characterised by shortened or malformed digits that are The linkage study comprised 34 members including 20 Tthought to be the result of abnormal growth of the affected subjects and was conducted after approval by the phalanges and/or metacarpals. First classified by Bell into Children’s Hospital of Eastern Ontario Ethics Review Com- types A, B, C, D, and E, they were reclassified by Temtamy and mittee. McKusick1 and Fitch.2 Brachydactyly type A1 (BDA1, MIM Peripheral blood samples were taken with informed 112500) is characterised by shortened or absent middle consent from all participating family members, and a stand- phalanges. Often the second and fifth digits, as well as the first ard protocol was used to isolate DNA. A genome wide scan proximal phalanx, are the most severely affected. In addition, was initiated using 36 primer sets from the MAPPAIRS™ all of the small tubular bones tend to be reduced in size and microsatellite markers (Research Genetics, Huntsville, Ala- the metacarpals may be shortened, particularly the fifth bama), encompassing markers from 16 chromosomes. metacarpal. Radial/ulnar clinodactyly, as well as malformed or Particular emphasis was placed on markers from chromo- 11 absent epiphyses, have also been reported.12 Complex some 5 and 17, based on the report by Fukushima et al syndromes have been described in which BDA1 is one of a describing a translocation between 5q11.2 and 17q23 in a girl number of manifestations.3 with Klippel-Feil anomaly and BDA1.
    [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]
  • 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.
    [Show full text]
  • 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.
    [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]
  • 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.
    [Show full text]
  • Craniofacial Development After Three Different Palatoplasties in Children Born with Isolated Cleft Palate
    From the DEPARTMENT OF DENTAL MEDICINE Karolinska Institutet, Stockholm, Sweden CRANIOFACIAL DEVELOPMENT AFTER THREE DIFFERENT PALATOPLASTIES IN CHILDREN BORN WITH ISOLATED CLEFT PALATE Konstantinos A. Parikakis Stockholm 2018 All previously published papers were reproduced with permission from the publisher Published by Karolinska Institutet Printed by Eprint AB 2018 © Konstantinos A. Parikakis, 2018 ISBN 978-91-7831-277-1 Craniofacial development after three different palatoplasties in children born with isolated cleft palate THESIS FOR DOCTORAL DEGREE (Ph.D.) By Konstantinos A. Parikakis Principal Supervisor: Opponent: Associate Professor Agneta Karsten Professor David Rice Karolinska Institutet University of Helsinki Department of Dental Medicine Department of Orthodontics Division of Orthodontics and Pedodontics Examination Board: Co-supervisor(s): Associate Professor Magnus Becker Associate Professor Ola Larson University of Lund Karolinska University Hospital Department of Plastic and Reconstructive Surgery Department of Reconstructive Plastic Surgery Professor Britt Gustafsson Karolinska Institutet Department of Clinical Science, Intervention and Technology (CLINTEC) Division of Pediatrics Associate Professor Farhan Bazargani University of Örebro Centrum för Specialisttandvard Department of Orthodontics To Christina, little Anastasios and…forthcoming Vassilios “Wherever the art of Medicine is loved, there is also a love of Humanity” Hippocrates of Kos, c.460-370 B.C. ABSTRACT Introduction: Different palatoplasties are applied for
    [Show full text]
  • 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
    [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]
  • Free PDF Download
    Eur opean Rev iew for Med ical and Pharmacol ogical Sci ences 2015; 19: 4549-4552 Concomitance of types D and E brachydactyly: a case report T. TÜLAY KOCA 1, F. ÇILEDA ğ ÖZDEMIR 2 1Malatya State Hospital, Physical Medicine and Rehabilitation Clinic, Malatya, Turkey 2Inonu University School of Medicine, Department of Physical Medicine and Rehabilitation, Malatya, Turkey Abstract. – Here, we present of a 35-year old examination, it was determined that the patient, female diagnosed with an overlapping form of who had kyphotic posture and brachydactyly in non-syndromic brachydactyly types D and E the 3 rd and 4 th finger of the right hand, in the 4th with phenotypic and radiological signs. There finger of the left hand and clinodactyly with was observed to be shortening in the right hand th metacarpal of 3 rd and 4 th fingers and left hand brachdactyly in the 4 toe of the left foot (Fig - metacarpal of 4 th finger and left foot metatarsal ures 1 and 2). It was learned that these deformi - of 4 th toe. There was also shortening of the distal ties had been present since birth and a younger phalanx of the thumbs and thoracic kyphosis. sister had similar shortness of the fingers. There The syndromic form of brachydactyly type E is was no known systemic disease. The menstrual firmly associated with pseudo-hypopthyroidism cycle was regular and there was no known his - as resistance to pthyroid hormone is the most prominent feature. As the patient had normal tory of osteoporosis. In the laboratory tests, the stature, normal laboratory parameters and no results of full blood count, sedimentation, psychomotor developmental delay, the case was parathormon (PTH), vitamin D, calcium, alka - classified as isolated E type brachydactyly.
    [Show full text]