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

The Irapa and the Iraqi types of SEMD superficially resemble the condition present in our patient. [czytelniamedyczna.pl]

Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). [malacards.org]

Table II describes possible LSDs that can present as hydrops fetalis. [clinicaladvisor.com]

Most patients present with mild genu valgum. The elbows are unable to extend fully. There may be widening of the lower femora and clavicles. Bones can sometimes be fragile, but fracturing is usually not common. [en.wikipedia.org]

• Disability

  disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability [se-atlas.de]

  Sketetal dysplasia coarse facies mental retardation 0 *Intellectual Disability *Osteochondrodysplasias *Genetic Diseases, X-Linked. [reference.md]

  Usually the intellectual disability is moderate, although sometimes, it can be very severe and there are also cases described with IQ in the normal range. [intechopen.com]

  Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. [genome.jp]

  Other chapters address the special populations of children, adolescents, females, geriatric athletes, and disabled athletes and general medical problems in athletic individuals. [euro-libris.ro]

• Anemia

  […] includes: Schmid-type metaphyseal chondrodysplasia hypovitaminosis C (scurvy) delayed maturation due to illness endocrine disturbances growth hormone excess hyperparathyroidism hypothyroidism The differential for flaring of the metaphysis includes: anemias [radiopaedia.org]

  Dry ice used to keep food cold, pyrethroid Pesticides Pre-existing illness—such as anemia, asthma, COPD, and coronary arterial disease—the stresses of flight could exacerbate symptoms. Nocebo effects can lead to health problems too. [wikivisually.com]

  - Anemia: Patients with severe anemia (5% of CHH patients) require repeated transfusions. [atlasgeneticsoncology.org]

  She had mild anemia (hemoglobin, 9.8 g/dl at 9.5 yr), which persisted for several years associated with a normal white cell count and differential. Her anemia had resolved by 16.9 yr. [academic.oup.com]

  […] syndrome Cataract-intellectual disability-hypogonadism syndrome Cataract-nephropathy-encephalopathy syndrome Catel-Manzke syndrome Caudal appendage-deafness syndrome Cenani-Lenz syndrome Central nervous system calcification-deafness-tubular acidosis-anemia [se-atlas.de]

• Short Finger

  Its special features include severely retarded growth, psychomotor retardation, abnormally small arms and legs, extremely short fingers, and curvature of the knees. [encyclopedia.com]

• Pneumonia

  Low-set ears. [109] Ophthalamic: Not noted [109] [110] Cardiopulmonary: Recurrent respiratory infections (sinusitis, pneumonia), restrictive lung disease, and/or interstitial fibrosis. [autoinflammatory-search.org]

  Reduced levels of white blood cells may cause these patients to be vulnerable to repeated bouts with pneumonia, otitis media, and other bacterial infections. [encyclopedia.com]

  Dentinogenesis imperfecta (subtype IB) Normal stature reached Hearing loss in 50% of patients OI type II - perinatal lethal form The condition is characterized as follows: Patients may survive the neonatal period Later mortality can occur secondary to pneumonia [emedicine.medscape.com]

  These rib fractures in abused children may be found incidentally on chest X-rays performed for other reasons, such as evaluation for pneumonia. [radiologyassistant.nl]

• Sparse Hair

  It is a multi-systemic disorder characterized by short stature, blond fine sparse hair, but this may be quite variable, and defective cellular immunity predominantly affecting T-cell mediated responses. [atlasgeneticsoncology.org]

  […] disability syndrome Osteoglosphonic dysplasia Osteomesopyknosis Osteonecrosis Osteonecrosis of the jaw Osteopathia striata-cranial sclerosis syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopenia-intellectual disability-sparse [se-atlas.de]

• Blister

  Clinical Photo Showing Haled Skin After Blister Formation Patient was taken for open reduction and internal fixation of proximal metaphyseal fracture of tibia under epidural anaesthesia. [boneandspine.com]

• Hearing Impairment

  Hearing impairment not usual (it is related to fusion of ossicles). Some patients present deformities of larynx and upper airways (laryngo and tracheomalacia). They can develop severe respiratory insufficiency. [gait.aidi.udel.edu]

  In addition to fractures, suggestive findings include blue sclerae, hearing impairment, dentinogenesis imperfecta, hypermobility of the joints, bruising and short stature. Subdural hemorrhage is a rare complication of the disease. [radiologyassistant.nl]

  At 26 years of age, the patient had conductive hearing impairment, cleft palate, prominent forehead, flat facies, and a broad nasal base resulting in the characteristic 'pugilist' appearance. [genome.jp]

  However, the hearing impairment is much more important. [intechopen.com]

  Renal manifestations: Patients with Fabry disease can present with progressive end-stage renal disease associated with other symptoms (hypertrophic cardiomyopathy, arrhythmias, hearing impairment, acroparesthesias) and X-linked inheritance in family history [clinicaladvisor.com]

• Platyspondyly

  Spine and Pelvis Platyspondyly 9. [slideshare.net]

  Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.Visit the Orphanet disease page for more resources. [malacards.org]

  Radiographic findings are widening, scalloping, and irregularity of the metaphysis of long tubular bones, shortness of the femoral neck, progressive coxa vara, severe and diffuse platyspondyly of vertebral bodies, delay in ossification of carpal bones [mjdrdypu.org]

  Spinal defects: platyspondyly, irregularities in the vertebral endplates. [109] Cartilage is affected (ears and nose too). [108] Some with concurrent Juvenile Rheumatoid Arthritis (JRA). [autoinflammatory-search.org]

  Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. Last updated: 9/7/2017 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

• Brachydactyly

  […] type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow [se-atlas.de]

  […] nonsyndromic sensorineural deafness type DFNA Fibrochondrogenesis Autosomal dominant macrothrombocytopenia Camurati-Engelmann disease Cystic fibrosis Fetal and neonatal alloimmune thrombocytopenia Glanzmann thrombasthenia 20p12.3 microdeletion syndrome Brachydactyly [csbg.cnb.csic.es]

  The associated skeletal abnormalities are spine anomalies, often with vertebral cleft, hip joint abnormalities and fifth finger brachydactyly. [intechopen.com]

  Additional features include short stature, delayed ambulation, mild mental retardation, horizontaliza-tion of the sacrum,brachydactyly, and coxa vara. [rrnursingschool.biz]

• Joint Stiffness

  […] mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Pectus carinatum [csbg.cnb.csic.es]

  PIP joint stiffness is in contrasts with the hypermobility of the thumb that is abducted over a short first metacarpal ("hitch-hiker" deformity). [gait.aidi.udel.edu]

  Becomes evident in early childhood ® bony lump or stiffness Usually unilateral involvement with one limb and only half of the epiphysis Common sites the tarsus, distal femur & proximal tibia Irregular bony masses protrude form the epiphysis 70% present [flinders.edu.au]

• Metatarsalgia

  Immature Athletes 12 Acromioclavicular Separations (Types 1–6) 14 Adductor Thigh Strain 16 Adhesive Capsulitis 18 Anaphylaxis 20 Ankle Sprains, Lateral 24 Ankle Sprains, Medial 26 Ankylosing Spondylitis 28 Anterior Interosseous Syndrome 30 Anterior Metatarsalgia [euro-libris.ro]

• Short Hands

  hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Epiphyseal vertebral anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / [csbg.cnb.csic.es]

• Clumsiness

  Peripheral neuropathy can present as initial symptoms of gait impairment; stumbling, clumsiness can resemble ataxia. Signs of distal muscle atrophy in upper and lower extremities can be present. [clinicaladvisor.com]

On chest X-ray obtained as part of apnea, workup showed metaphyseal widening and dysplasia. Baby was re-evaluated, and there was no obvious dysmorphism. [mjdrdypu.org]

Probably needs a metabolic workup to r/o rickets. Also get x rays of the remaining joints of upper extremity. Regards, Sanjeev Sabharwal Pediatric Orthopedics E-mail: [email protected] FROM: K I. [orthopaedicsone.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

If you are able to confirm that the patient has a lysosomal storage disease, what treatment should be initiated? The treatment of LSDs can be divided in supportive and specific treatment categories. [clinicaladvisor.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]

Treatment - Ulna metaphyseal dysplasia syndrome Not supplied. Resources - Ulna metaphyseal dysplasia syndrome Not supplied. [checkorphan.org]

Prognosis - Ulna metaphyseal dysplasia syndrome Not supplied. Treatment - Ulna metaphyseal dysplasia syndrome Not supplied. Resources - Ulna metaphyseal dysplasia syndrome Not supplied. [checkorphan.org]

Gloomy prognosis [ Back to the Top ] Metaphyseal Dysplasias (hyperdysplasias) 1. [flinders.edu.au]

Prognosis Prognosis depends on the precise nature of the specific osteochondrodysplasia. Among infants with skeletal dysplasias detected at birth, approximately 13% are stillborn and 44% die during the perinatal period. [patient.info]

Treatment and prognosis Treatment requires correction of the metabolic imbalance. Only rarely is orthopedic surgical intervention necessary to correct skeletal deformities. [radiopaedia.org]

PMID 9584003 Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. Mäkitie O, Heikkinen M, Kaitila I, Rintala R Journal of pediatric surgery. 2002 ; 37 (11) : 1585-1588. PMID 12407544 DWARFISM IN THE AMISH. II. [atlasgeneticsoncology.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

[…] non-vitamin D supplemented formula fed infants vegetarian diets maternal vitamin D deficiency lack of sun exposure dark skin in sun-poor countries lack of outdoor time clothing that eliminates sun exposure The onset and presentation of rickets depend on the etiology [radiopaedia.org]

Negative investigations for infection etiology, unbalanced chromosomal abnormalities and congenital major malformations (heart, kidneys and vascular system). [clinicaladvisor.com]

Each chapter includes a description of the specific abnormality - including occasional associated abnormalities - natural history, etiology, and references. [geneeskundeboek.nl]

Abundant periosteal bone formation in a case of Caffey's disease Caffey's disease This is a rare disease of unknown etiology. These children have extreme periosteal reactions. [radiologyassistant.nl]

[…] dystrophy Synonym(s): (no synonyms) Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Epidemiology Incidence is in the region of 1/4,000 births. [ 1 ] Lethal skeletal dysplasias are estimated to occur in 0.95 per 10,000 deliveries. [patient.info]

Introduction Epidemiology incidence common - forearm fractures in total account for approximately 40% of all pediatric long bone fractures distal radius (and ulna) is the most common site of pediatric forearm fractures. male > female (male 2-3 times more [orthobullets.com]

(Another epidemiology study in an European country confirms the prevalence observed in other countries.) Mechtler, TP, Stary, S, Metz, TF, De Jesús, VR, Greber-Platzer, S, Pollak, A. [clinicaladvisor.com]

"Epidemiology of pancreatic cancer". Epidemiology of Chronic Disease. Jones & Bartlett. pp. 181–190. ISBN 978-0-7637-8047-0. Archived from the original on 24 June 2016. ^ a b c d e f g Öberg K, Knigge U, Kwekkeboom D, Perren A (October 2012). [en.wikipedia.org]

The pathophysiology of Pyle metaphyseal dysplasia is a defect in metaphyseal remodeling which leads to metaphyseal widening of the long tubular bones with associated cortical thinning and osteoporosis. [mjdrdypu.org]

[…] male > female (male 2-3 times more common than female) demographics most common during metaphyseal growth spurt peak incidence occurring from: 10-12 years of age in girls 12-14 years of age in boys most common fracture in children under 16 years old Pathophysiology [orthobullets.com]

Physiology and pathophysiology of the growth plate. Birth Defects Res C Embryo Today 2003; 69 : 123–143. 5. Ballock RT, O'Keefe RJ. The biology of the growth plate. J Bone Joint Surg Am 2003; 85 : 715–726. 6. [nature.com]

"Nanomedicine strategies to overcome the pathophysiological barriers of pancreatic cancer". Nature Reviews Clinical Oncology. 13 (12): 750–765. doi : 10.1038/nrclinonc.2016.119. ISSN 1759-4774. [en.wikipedia.org]

Prevention - Ulna metaphyseal dysplasia syndrome Not supplied. Diagnosis - Ulna metaphyseal dysplasia syndrome The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Rosenberg-Lohr syndrome. [checkorphan.org]

Archived from the original (PDF) on 12 January 2015. ^ a b "Can pancreatic cancer be prevented?". American Cancer Society. 11 June 2014. Archived from the original on 13 November 2014. [en.wikipedia.org]

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]

Genetics, Genetic Counseling, and Prevention 5. Minor Anomalies as Clues to More Serious Problems and Toward the Recognition of Malformation Syndromes 6. [geneeskundeboek.nl]