Angular Deformities of the Lower Limbs in Children
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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 -
Investigating the Genetic and Genomic Basis of Osteochondrosis in Thoroughbred Horses from Australia and New Zealand
Investigating the genetic and genomic basis of osteochondrosis in Thoroughbred horses from Australia and New Zealand Kao Castle The University of Sydney A thesis submitted to the Faculty of Veterinary Science, The University of Sydney, in fulfilment of the requirements for the Degree of Doctor of Philosophy December 2012 i Declaration I declare that the work presented in this thesis is, to the best of my knowledge and belief, original, except as acknowledged in the text, and that the material has not been submitted, either in whole or in part, for a degree at this or any other university. (Kao Castle) 17 December 2012 ii Statement of Contributions The identities of the studs and horses that participated in the research described in this thesis are protected by confidentiality agreements. On this basis, the names of stud staff and veterinarians who provided data for this research are not listed as authors or named in the acknowledgements, although their input was invaluable. Chapter 2, Skeletal lesions and injuries in Australasian Thoroughbred weanling and yearling radiographs (draft manuscript). Castle K., Tammen I., Thomson P.C., Jeffcott L.B., Raadsma H.W. and Nicholas F.W. • Dr Tammen supervised components of this work, contributed to discussions, and provided feedback on the presentation of results. • Associate Professor Thomson provided advice on statistical techniques to compare results between the weanling and yearling populations, and provided feedback on the presentation of results. • Professors Jeffcott and Raadsma contributed to planning the data collection strategy, and provided feedback on the presentation of results. • Emeritus Professor Nicholas supervised components of this work, contributed to discussions and provided extensive feedback on the presentation of the results, and edited the manuscript. -
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). -
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 -
Association of Mutations in FLNA with Craniosynostosis
European Journal of Human Genetics (2015) 23, 1684–1688 & 2015 Macmillan Publishers Limited All rights reserved 1018-4813/15 www.nature.com/ejhg ARTICLE Association of mutations in FLNA with craniosynostosis Nathalie Fennell1, Nicola Foulds2,3, Diana S Johnson4, Louise C Wilson5, Michelle Wyatt6, Stephen P Robertson7, David Johnson1, Steven A Wall1 and Andrew OM Wilkie*,1,8 Mutations of FLNA, an X-linked gene that encodes the cytoskeletal protein filamin A, cause diverse and distinct phenotypes including periventricular nodular heterotopia and otopalatodigital spectrum disorders (OPDS). Craniofacial abnormalities associated with OPDS include supraorbital hyperostosis, down-slanting palpebral fissures and micrognathia; craniosynostosis was previously described in association with FLNA mutations in two individual case reports. Here we present four further OPDS subjects who have pathological FLNA variants and craniosynostosis, supporting a causal link. Together with the previously reported patients, frontometaphyseal dysplasia was the most common clinical diagnosis (four of six cases overall); five patients had multiple suture synostosis with the sagittal suture being the most frequently involved (also five patients). No genotype– phenotype correlation was evident in the distribution of FLNA mutations. This report highlights the need to consider a filaminopathy in the differential diagnosis of craniosynostosis, especially in the presence of atypical cranial or skeletal features. European Journal of Human Genetics (2015) 23, 1684–1688; doi:10.1038/ejhg.2015.31; published online 15 April 2015 INTRODUCTION stenosis, and ureteric and urethral stenosis.9 Melnick–Needles syn- The phenotypic spectrum associated with mutations in FLNA is drome (MNS) is usually lethal in males; facial features in affected unusually diverse and correlates with the functional consequence for females include prominent supraorbital ridge, exorbitism, oligohypo- the filamin A protein. -
Osteochondrosis and Arthrosis in Pigs Ii
Acta vet. scand, 1974, 15, 26-42. From the Department of Pathology, Veterinary College of Norway, Oslo. OSTEOCHONDROSIS AND ARTHROSIS IN PIGS II. INCIDENCE IN BREEDING ANIMALS By Trygve Grendalen GR0NDALEN, TRYGVE: Osteochondrosis and arthrosis in pigs. 11. Incidence in breeding animals. Acta vet. scand. 1974, 15, 26-42. - Joint and bone lesions in breeding pigs are described on the background of an investdgatlon involving 174 sows and 155 boars from 7 months to 4% years old . Lesions, which consisted pre dominantly of arthrosis, degeneration of intervertebral discs, spon dylosis and epiphyseal separations, were demonstrated frequently in both sexes. Osteochondrosis, a condition previously demonstrated frequently in slaughter pigs, had either completely healed, undergone repair or developed into an arthrosis by the time the animal reached an age of about 1% years. Whereas a higher incidence of arthrosis of the intervertebral joints was found in boars than in sows, the reverse was true as regards degeneration of the intervertebral discs and anchylosing spondylosis. Possible reasons for this are discussed. Norwegian pigs show a higher incidence of lesions in the lumbar region of the vertebral column than has been described up to the present time in other countries. os teo c h 0 n d r 0 sis; art h r 0 sis; pig. A high incidence of osteochondrosis in joints and epiphyseal plates, and arthrosis, especially in the lumbar intervertebral joints, the distomedial hock joints, the elbow and stifle joint in pigs up to 120 kg live weight has been previously described (Grpndalen 1974). A review of the literature showed that osteo chondrosisand archrosis are widespread in pigs in various coun tries. -
Promising: Process Improvement in Psychosocial Health
PROMISing: Process Improvement in Psychosocial Health Carly Woodmark MS │ Dereesa Reid MBA │ Daniel Bouton MD SHC-Portland │ Department of Performance Improvement Abstract no. 20 Shriners Team And Patients PROMISing Changes Shriners Hospitals for Children is a network of 22 non-profit medical facilities across North America. Benefits of PROMIS Intervention Pre-op Post-op Since 1924, SHC-Portland has treated a wide range of pediatric orthopedic conditions, from fractures to rare diseases and syndromes. Our Integrated Practice Unit of multi-disciplinary Minor burden of taking PROMIS is offset by quality professionals provide a comprehensive approach through specialized evaluation and treatment communication of meaningful progress between along with rehabilitative services to restore each child physically, emotionally, and socially. Below is patient/family & physician during clinic visit. a list of common conditions treated at SHC-Portland. Medical providers can demonstrate improvements Skeletal abnormalities – Osteogenesis imperfecta (OI), osteochondritis dissecans (OCD lesions), from interventions & adjust care management if Blount disease, skeletal dysplasias, etc. needed. Outcome Performance Improvement Neuromuscular conditions – Cerebral palsy, myelomeningocele (spina bifida), Muscular dystrophy, spinal muscular atrophy After one year of data collection, rates of Minimal Clinical Important Difference (MCID) were assessed for all patient-reported domains in both surgical and non-surgical populations. Multivariate Hand/Upper extremity -
Sotos Syndrome
European Journal of Human Genetics (2007) 15, 264–271 & 2007 Nature Publishing Group All rights reserved 1018-4813/07 $30.00 www.nature.com/ejhg PRACTICAL GENETICS In association with Sotos syndrome Sotos syndrome is an autosomal dominant condition characterised by a distinctive facial appearance, learning disability and overgrowth resulting in tall stature and macrocephaly. In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1, which encodes a histone methyltransferase implicated in chromatin regulation. More recently, the NSD1 mutational spectrum has been defined, the phenotype of Sotos syndrome clarified and diagnostic and management guidelines developed. Introduction In brief Sotos syndrome was first described in 1964 by Juan Sotos Sotos syndrome is characterised by a distinctive facial and the major diagnostic criteria of a distinctive facial appearance, learning disability and childhood over- appearance, childhood overgrowth and learning disability growth. were established in 1994 by Cole and Hughes.1,2 In 2002, Sotos syndrome is associated with cardiac anomalies, cloning of the breakpoints of a de novo t(5;8)(q35;q24.1) renal anomalies, seizures and/or scoliosis in B25% of translocation in a child with Sotos syndrome led to the cases and a broad variety of additional features occur discovery that Sotos syndrome is caused by haploinsuffi- less frequently. ciency of the Nuclear receptor Set Domain containing NSD1 abnormalities, such as truncating mutations, protein 1 gene, NSD1.3 Subsequently, extensive analyses of missense mutations in functional domains, partial overgrowth cases have shown that intragenic NSD1 muta- gene deletions and 5q35 microdeletions encompass- tions and 5q35 microdeletions encompassing NSD1 cause ing NSD1, are identifiable in the majority (490%) of 490% of Sotos syndrome cases.4–10 In addition, NSD1 Sotos syndrome cases. -
Stress Fracture in Club Foot
Case Report Stress fracture in club foot Jayakrishnan K Narayana Kurup1,*, Imthias V Kottamttavida2, Hitesh Shah3 1,2Senior Resident, 3Associate Professor, Dept. of Orthopaedics, Kasturba Medical College, Manipal University, Manipal, Karnataka *Corresponding Author: Email: [email protected] Abstract Stress fracture is rare in children. It is mostly described in adolescent involved in sports, athletics or dancing. Stress fracture in club foot is extremely rare; it might be due to the altered anatomy and may be a source of pain. We present a 6 year old girl with bilateral relapsed club feet with stress fracture of the proximal third of the fourth metatarsal on the left side. Correction of the deformity, cast immobilization and non-weight bearing led to the union of the fracture. Early correction of the deformity is justified to prevent recurrence of fractures. Key words: Stress fracture, Children, Club foot, Relapse, Deformity Key message: In children with relapsed or recurrent club foot, pain over the foot on walking and activity should be evaluated for possibility of a stress fracture. An early correction of the deformity is required to treat stress fractures. Access this article online were noted. The deformity progressed after the age of 2 Quick Response years. Bilateral deformity of hind foot varus and equinus, Code: Website: forefoot adduction and cavus were noted on clinical www.innovativepublication.com examination. Left side deformities were not passively correctable. There was callosity over the later border of both feet. There was no tenderness anywhere in the left DOI: foot. Her Body Mass Index (BMI) was 17 kg/m2 (normal 10.5958/2395-1362.2016.00025.6 for her age). -
23 Chromosome Trisomy 18 Syndrome
638 Chromosome Trisomy 18 Syndrome 23 Chromosome Trisomy 18 Syndrome Edwards syndrome • Wide fontanels • Wormian bones Developmental and mental retardation, dolicho- • Thin calvaria cephaly, short palpebral fissures, micrognathia, over- • Hypoplasia of periorbital ridges lapping fingers, rocker-bottom feet • Hyper- or hypotelorism • Micrognathia (96%) Frequency: 1 in 5,000 births. Hands and Feet • Clenched hands, overlapping fingers Genetics • Ulnar deviation of the hand Trisomy 18; maternal age is a risk factor for aneu- • Hypoplastic thumbs, short 1st metacarpal ploidy; critical segment 18q11-q12. • Syndactyly, polydactyly, ectrodactyly • Short, hypoplastic, or absent finger phalanges Clinical Features • Equinovarus feet, rocker-bottom feet • Growth deficiency, failure to thrive • Toe syndactyly (2nd and 3rd toes most frequently • Hypoplastic skeletal muscle and subcutaneous fat involved) • Microcephaly, narrow bifrontal diameter, promi- • Hypoplastic, absent proximal hallucal phalanx nent occiput • Dysmorphic/absent toe phalanges • Short palpebral fissures, epicanthal folds, ptosis, Extremities microphthalmia, corneal opacities • Most pronounced changes involve the mesomelic • Short upper lip, small mouth, cleft lip/palate segments of the limbs • Micrognathia • Thin long bones • Low-set, dysplastic ‘fawn-like,’ posteriorly rotated • Tibial aplasia ears • Patellar aplasia • Shield-chest, short sternum, hypoplastic nipples • Genu valgum • Umbilical and inguinal hernia, diastasis recti • Radial hypoplasia • Cryptorchidism, hypoplastic labia -
Osteochondrosis – Primary Epiphyseal (Articular/Subchondral) Lesion Can Heal Or Can Progress
60 120 180 1 distal humeral condyles 2 medial epicondyle 3 proximal radial epiphysis 4 anconeal process Lab Ret study N=1018 . Normal . Affected . Total 688 (67.6%) . Total 330 (32.4%) . Male 230 (62.2%) . Male 140 (37.8%) . Female 458 (70.7%) . Female 190 (29.3%) Affected dogs N=330 1affected site - 250 (75.7%) 2 affected sites - 68 (20.6%) 3 affected sites - 12 (3.6%) immature skeletal diseases denis novak technique for skeletal radiography tissue < 12 cm “non-grid” (“table-top”) technique “high detail” system radiation safety diagnosis X – rays examination Ultrasound CT bilateral lesions - clinical signs ? unilateral present > one type of lesion 2ry arthrosis Common Osteochondrosis – primary epiphyseal (articular/subchondral) lesion can heal or can progress Osteochondritis dissecans – free articular fragment will progress Arthrosis Osteochondrosis talus / tarsus Lumbosacral OCD Lumbosacral OCD Inflammatory diseases Panosteitis – non infectious Hypertrophic osteodystrophy (HOD) – perhaps infectious Osteomyelitis - infectious Panosteitis New medullary bone Polyostotic Multiple lesions in one bone Symmetrical or nonsymmetrical Sclerotic pattern B I L A T E R A L periosteal new bone forms with chronicity Cross sections of a tibia different locations Hypertrophic osteodystrophy (HOD) Dogs are systemically ill, febrile, anorectic, reluctant to walk most will recover Radiographic changes of HOD . Polyostotic . Metaphyseal . Symmetrical . Changes of lesion Early Mid Late lytic “plates” in acute case HOD - 4 m ret – lesions are present -
Phenotypes of a Family with XLH with a Novel PHEX Mutation Akiko Yamamoto 1, Toshiro Nakamura1,Yasuhisaohata 2, Takuo Kubota2 and Keiichi Ozono2
Yamamoto et al. Human Genome Variation (2020) 7:8 https://doi.org/10.1038/s41439-020-0095-1 Human Genome Variation DATA REPORT Open Access Phenotypes of a family with XLH with a novel PHEX mutation Akiko Yamamoto 1, Toshiro Nakamura1,YasuhisaOhata 2, Takuo Kubota2 and Keiichi Ozono2 Abstract X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating neutral endopeptidase homolog X-linked (PHEX) gene who presented with a short stature, genu valgum, and scaphocephaly. The same mutation was identified in his mother and sister; however, the patient presented with a more severe case. X-linked hypophosphatemia (XLH) is an X-linked whereas his elder and younger brothers did not have a dominant disorder and the most common form of heri- short stature (Fig. 1(a)). table rickets, with a case rate estimate of ~1 case per At the time of his visit, his height was 95.4 cm 20,000 live births1. Inactive mutations in PHEX, which is (−2.51 standard deviation score (SDS)), weight was located in Xp22.1-22.2, have been implicated in the 14.8 kg (−1.13 SDS), and growth rate was 5.2 cm per year pathogenesis of XLH. More than 200 different mutations (−1.40 SDS), and genu valgum and scaphocephaly were in PHEX have been identified to date2. XLH is char- both evident. He did not have any dental issues or other acterized by rickets accompanied by bone deformities, a symptoms. fi 1234567890():,; 1234567890():,; 1234567890():,; 1234567890():,; short stature, dental anomalies, bone pain, hearing dif - His serum calcium level was 9.71 mg/dl (normal culties, enthesopathy, and muscular dysfunction3.