Jay Kumar, M.D., Attending, Orthopaedic Surgery August 29, 1995 CLINICAL CASE PRESENTATION ORTHOPAEDIC DEPARTMENT THE ALFRED I. [gait.aidi.udel.edu]

The paediatrician is concerned because most of the disorders present in childhood as a problem in clinical differential diagnosis. [buecher.de]

Unlike previously reported cases with the Ribbing type, the present patients did not have short stature or brachydactyly. This report expands further the phenotypic variations of COMP defects. [link.springer.com]

[…] cartilage and play a role in skeletal development – chondrocytes of this type are rarely found in osteochondrodysplasias), [5] brachydactyly (shortened fingers) and micromelia (undersized, shortened bones). [2] The characteristic “boomerang” malformation presents [checkrare.com]

Study Guide Key Points: MED is a common skeletal dysplasia, inherited in an autosomal dominant fashion, with the most common mutations affecting COMP or Collagen IX Presentation is usually due to joint pain or contractures, and the spine is not affected [posna.org]

• Short Stature

  stature Treatment Treatment will depend on the cause of the short stature. [medicalnewstoday.com]

  Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. [malacards.org]

  Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands. [emedicine.medscape.com]

  Mutations or deletions of one of these genes lead to growth hormone deficiency, resulting in short stature. [intechopen.com]

• Pain

  In general, activity that increases pain is to be avoided. For example: Typing can reduce pain from writing. Voice control software or a more ergonomic keyboard can reduce pain from typing. Bent knees or sitting can reduce pain from standing. [en.wikipedia.org]

  Joint pain is usually worse after physical exercise. Pain and loss of motion in the shoulders may occur in adulthood. [rarediseases.org]

  Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. [malacards.org]

  […] hypermobility COL5A1 or COL5A2 mutation; t ype V collagen (co-expressed with type I collagen) Hypermobility - Type III (hypermobile) autosomal dominant large and small joint hypermobility, recurring joint subluxations/dislocations, velvety soft skin, chronic pain [orthobullets.com]

  Study Guide Key Points: MED is a common skeletal dysplasia, inherited in an autosomal dominant fashion, with the most common mutations affecting COMP or Collagen IX Presentation is usually due to joint pain or contractures, and the spine is not affected [posna.org]

• Dysostosis

  10.1 Cranio-Facial Dysostosis (Crouzon Syndrome).- 10.2 Acrocephalosyndactyly (Apert Syndrome).- 10.3 Acrocephalopolysyndactyly (Carpenter Syndrome).- 10.4 Mandibulofacial Dysostosis (Treacher Collins Syndrome).- 11. [buecher.de]

  Jarvis JL, Keats TE: Cleidocranial dysostosis: a review of 40 new cases. Am J Roentgenol Ther Nucl Med 121:5-16,1974. [orthopaedicsone.com]

  Abnormal metacarpal morphology Abnormality of the hand Cleft soft palate Glossoptosis Exostoses Abnormal joint morphology Abnormality of the eye Pectus excavatum Long philtrum Severe sensorineural hearing impairment Aortic regurgitation Flared iliac wings Dysostosis [mendelian.co]

  […] symptomatic of a serious medical condition, such as Stickler Syndrome, Ehlers-Danlos syndrome, [9] Marfan syndrome, [9] Loeys-Dietz syndrome, rheumatoid arthritis, osteogenesis imperfecta, [9] lupus, polio, Down syndrome, [9] morquio syndrome, cleidocranial dysostosis [en.wikipedia.org]

• Short Finger

  Features include: an average-sized trunk short limbs, especially the upper arms and legs short fingers, possibly with a wide space between the middle and ring fingers limited mobility in the elbows a large head with a prominent forehead and flattened [medicalnewstoday.com]

• Surgical Procedure

  Surgical procedures may be recommended to treat abnormalities of the knee. Investigational Therapies A registry for skeletal dysplasias has been set up at the University of California Los Angeles. [rarediseases.org]

• Respiratory Insufficiency

  Lethal form (death soon after birth because of cardio- respiratory insufficiency) 2. Diastrophic variant (mild form with only some features) Most patients have a normal life-span expectancy. [gait.aidi.udel.edu]

  insufficiency OI type III - progressive deforming form This form is characterized as follows: Moderate deformity at birth Development of chest wall deformities Most patients are wheelchair dependent Very short stature Variable sclera Dentinogenesis imperfecta [emedicine.medscape.com]

• Failure to Thrive

  A pediatrician will look out for signs of "failure to thrive." Early intervention can prevent future problems in many cases. Normally, at 8 years of age, a child's arm span is around the same as their height. [medicalnewstoday.com]

• Translucent Skin

  chronic pain, scoliosis unknown mutation Vascular - Type IV (vascular) autosomal dominant, rarely autosomal recessive translucent skin, arterial/intestinal/uterine fragility and spontaneous rupture, extensive bruising COL3A1 mutation; abnormal type [orthobullets.com]

• Ear Deformity

  Typical vertebral body deformities. Arthrogryposis: no dwarfism, no epi-metaphseal involvement, no ear deformity and hitchhiker thumb SED: short-trunk dwarfism with stiff hips and often cleft palate and clubfoot, but no thumb and ear involvement. [gait.aidi.udel.edu]

• Brachydactyly

  Unlike previously reported cases with the Ribbing type, the present patients did not have short stature or brachydactyly. This report expands further the phenotypic variations of COMP defects. [link.springer.com]

  […] callosum,hydrocephalus, cardiac defect, kidney malformation AD Type I (most common) Telephone receiver femora, normal skull Lethal Type II Cloverleaf-shaped skull Lethal Achondroplasia Common FGFR3 AD Heterozygous Macrocephaly Rhizomelia Trident hand Brachydactyly [perinatology.com]

  […] heterozygous parents of those with Robinow syndrome do not have brachydactyly. 18, 19 Similarly, heterozygous IHH mutations cause brachydactyly type A1 (BDA1), whereas homozygous mutations cause acrocapital femoral dysplasia (ACFD) with no manifestations [jmg.bmj.com]

  EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; EDMMD Is also known as ;multiple epiphyseal dysplasia-myopia-deafness syndrome Related symptoms: Autosomal dominant inheritance Short stature Hearing impairment Cataract Brachydactyly [mendelian.co]

  12.3.4 Brachydactyly.- 12.3.5 Ectrodactyly.- 13. Mucopolysaccharidoses and Other Storage Disorders.- 13.1 MPS I-H(Hurler Syndrome).- 13.2 MPS II(Hunter Syndrome).- 13.3 MPS IV(Morquio Syndrome).- 13.4 Gaucher Disease.- 14. [buecher.de]

• Osteoporosis

  Deafness, Femoral Epiphyseal Dysplasia, And Lacrimalduct Obstruction Hunter-Macdonald Syndrome Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasiacongenita, And Genital Anomalies Lowry-Wood Syndrome Macroepiphyseal Dysplasia With Osteoporosis [familydiagnosis.com]

  Other skeletal manifestations of infantile hypothyroidism include generalized osteoporosis, wormian bones, soft tissue calcification, and vertebral and rib anomalies (Bamforth et al. 1986). [rrnursingschool.biz]

  During adulthood, a person with this type of restricted growth is more likely to experience: osteoporosis cardiovascular problems reduced muscle strength Rarely, there may be cognitive problems, or problems with thinking. [medicalnewstoday.com]

  This same defect also results in weakened bones, which may result in osteoporosis and fractures. [en.wikipedia.org]

  Fracture due to osteoporosis or osteopetrosis, atlantoaxial subluxation in mucopolysaccharidosis, progressive scoliosis are only few examples of the variety of the clinical scene [ 29 ]. [intechopen.com]

• Genu Valgum

  Affiliated tissues include bone and eye, and related phenotypes are genu valgum and epiphyseal dysplasia [malacards.org]

  SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE Is also known as spondylometaphyseal dysplasia, schmidt type, spondylometaphyseal dysplasia with severe genu valgum;spondylometaphyseal dysplasia with severe genu valgum; spondylometaphyseal dysplasia, algerian [mendelian.co]

  Progressive genu valgum and increased flexion contractures of knees and hips are now compromising the walking ability of the patient. PREVIOUS ORTHOPAEDIC TREATMENT: Feet: bilateral taping and serial casts. PMLR on the left foot (at age 9 months). [gait.aidi.udel.edu]

  In rare cases, additional symptoms may occur including a hip deformity in which the thigh bone is angled toward the center of the body (cox vara), bowed legs (genu varum), and ‘knock knees’ (genu valgum), a condition in which the legs bend inward so that [rarediseases.org]

• Platyspondyly

  DENTAL ANOMALIES AND SHORT STATURE; DASS Is also known as platyspondyly with amelogenesis imperfecta, tooth agenesis, selective, 6, formerly;sthag6, formerly;platyspondyly-amelogenesis imperfecta syndrome; verloes-bourguignon syndrome Related symptoms [mendelian.co]

  Kyphosis: Abnormal posterior curvature of the thoracic spine (hunchback) Lordosis: Abnormal anterior curvature of the lumbar spine (swayback or saddle back) Hemivertebrae: Partially formed vertebral body Platyspondyly: Flattening of the vertebral body [perinatology.com]

  […] more severe changes than are seen in a, with flattening, irregular contours, and dysplastic appearance. c The radiograph of a 6-year-old patient with pseudoachon-droplasia, also due to mutation in the COMP gene, is shown for ture (epiphyseal changes, platyspondyly [rrnursingschool.biz]

  The latest guideline about radiological classification of skeletal dysplasias points out four groups, as follow: GROUP 1: Epiphyseal dysplasias with/without spine involvement (Platyspondyly +/-); GROUP 2: Metaphyseal dysplasias with limb shortening/abnormal [intechopen.com]

• Arthralgia

  The criteria are: Major criteria [ edit ] A Beighton score of 4/9 or more (either current or historic) Arthralgia for more than three months in four or more joints Minor criteria [ edit ] A Beighton score of 1, 2 or 3/9 (0, 1, 2 or 3 if aged 50+) Arthralgia [en.wikipedia.org]

  Osteoarthritis Malar flattening Spondyloepiphyseal dysplasia Vitreoretinal degeneration Autosomal recessive inheritance Scoliosis Retinopathy Rare Symptoms - Less than 30% cases Pierre-Robin sequence Anteverted nares Coxa vara Short palm Pectus carinatum Arthralgia [mendelian.co]

  Affected individuals also experience early onset of inflammation, pain and stiffness in affected joints (early-onset arthritis) that can develop into chronic joint pain (arthralgia). [rarediseases.org]

• Round Face

  Hernia Delayed skeletal maturation Abnormal facial shape Increased serum beta-hexosaminidase Increased serum iduronate sulfatase activity Abnormality of the rib cage Ptosis Membranous vitreous appearance Limitation of joint mobility Anterior rib cupping Round [mendelian.co]

[…] each elbow >10° (1 point each) forward flexion of trunk with palms on floor and knees fully extended (1 point) Imaging Radiographs look for joint dislocations/subluxations kyphoscoliosis Echocardiogram cardiac evaluation with echo is mandatory in the workup [orthobullets.com]

Clinical Testing and Workup Basic x-rays (radiographs) can help to establish a diagnosis by revealing abnormal epiphyses and other characteristic skeletal findings. Molecular genetic testing can support a diagnosis of multiple epiphyseal dysplasia. [rarediseases.org]

• Delayed Bone Age

  A 14% of patients showed a low mean GH concentration during sleep, presenting also a markedly low IGF-1 level and marked delay of bone age [ 81 ]. [intechopen.com]

The reader learns of pediatric orthopedic deformity in relation to normal and abnormal developmental biology, the worsening of untreated disease with growth, and the diagnostic and treatment interventions required based on the stage of progression. * [books.google.de]

The patient may receive treatment to control chronic conditions, such as heart disease, lung disease, and arthritis. Treatment for DSS As DSS often stems from a genetic disorder, treatment focuses mainly on the complications. [medicalnewstoday.com]

Waiting for new, more effective and specific treatments in patients with ACH, r-hGH treatment may be beneficial in the treatment of short stature in achondroplasia. [intechopen.com]

TREATMENT: Literature data are not enough to evaluate the orthopaedic treatment of this disease. Prevention and treatment of contractures, dislocations as well as spinal and foot deformities should be the goal of the orthopedist. [gait.aidi.udel.edu]

Our registered charity Number is : 326161 The Association Aims to to aid research to find a universal treatment for children with Perthes disease and hopefully a cure. [perthes.org.uk]

Molecular analysis is likely to expand the clinical spectrum of MED and may also provide data relevant to prognosis and future therapeutic intervention. The overall incidence of MED is estimated to be 1 in 10,000 births. [egl-eurofins.com]

[…] absent radius in TAR syndrome, multiple epiphyseal centres in the patella I some form of diastrophic dysplasia) Soft tissue : wasting or excessive soft tissues, contractures and calcifications should be looked for, as they are involved in patient’s prognosis [intechopen.com]

雑誌 Pediatr Pathol Mol Med 22:53-75 (2003) 文献 PMID: 11891674 著者 Unger S, Hecht JT タイトル Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. [genome.jp]

Etiology: The genetic basis for this disorder is now reasonably well understood. MED is a heterogeneous disorder. [posna.org]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

Epidemiology: Clinical Findings: Patients typically present later in childhood with joint pain in the lower extremities, decreased range of motion, gait disturbance, or angular deformities of the knees, such as genu varum or valgum. [posna.org]

Epidemiology [ edit ] Hypermobile joints occur in about 10 to 25% of the population. [2] See also [ edit ] Ligamentous laxity References [ edit ] ^ Federman CA, Dumesic DA, Boone WR, Shapiro SS. [en.wikipedia.org]

Benli IT, Akalin S, Boysan E, Mumcu EF, Kis M, Türkoglu D: Epidemiological, clinical and radiological aspects of osteopoidilosis. J Bone Joint Surg 74B:504-6,1992. [orthopaedicsone.com]

Based on the epidemiological and clinical aspects, skeletal dysplasias can be further subdivided in order to simplify the diagnostic approach [ 26, 27 ]: Depending on the neonatal lethality: Usually fatal Achondrogenesis Thanatophoric dysplasia Short [intechopen.com]

JAN-FEB 2003; 22 (1) : 53-75Smith-RKW; Birch-HL; Goodman-S; Heinegard-D; Goodship-AEThe influence of ageing and exercise on tendon growth and degeneration - hypotheses for the initiation and prevention of strain-induced tendinopathiesCOMPARATIVE-BIOCHEMISTRY-AND-PHYSIOLOGY-A-MOLECULAR-AND-INTEGRATIVE-PHYSIOLOGY [malattierare.regione.veneto.it]

Early intervention can prevent future problems in many cases. Normally, at 8 years of age, a child's arm span is around the same as their height. [medicalnewstoday.com]

[…] recalcitrant to non-operative management technique soft tissue procedures are unlikely successful in hypermobile joints posterior spinal fusion indications progressive scoliosis (most common in Kyphoscoliosis Type) technique longer fusions needed to prevent [orthobullets.com]

Prevention and treatment of contractures, dislocations as well as spinal and foot deformities should be the goal of the orthopedist. CASE HISTORY: O.A. female. DOB 2-6-91. Product of a normal gestation. Two healthy half-sisters. [gait.aidi.udel.edu]

Medical care for individuals with skeletal dysplasia should be directed at preventing neurologic and orthopedic complications due to spinal cord compression, joint instability, and long bone deformity. [emedicine.medscape.com]