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]

• Pain

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

  Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. [rarediseases.info.nih.gov]

  Symptoms - Ulna metaphyseal dysplasia syndrome Wrist pain Thickened wrists Irregular metaphyses Thickened dorsum sellae Wedged vertebrae Causes - Ulna metaphyseal dysplasia syndrome Not supplied. [checkorphan.org]

  Syndrome Synonyms METAPHYSEAL CHONDRODYSPLASIA, ROSENBERG TYPE Classification bone, developmental, genetic Phenotypes Abnormality of the vertebral column ; Autosomal dominant inheritance ; Coxa valga ; Delayed skeletal maturation ; Hypercalcemia ; Wrist pain [mousephenotype.org]

• Developmental Delay

  developmental delay, mental delay, retardation, cognitive deficits, cerebral calcifications, calcification, otitis media, ear infection, pulmonary, respiratory, sinus infection, fibrosis, thyroid, growth delay, restrictive lung disease, sinusitis, pneumonia [autoinflammatory-search.org]

  […] membranous cranial ossification Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Desbuquois syndrome Desmosterolosis Developmental and speech delay due to SOX5 deficiency Developmental delay-deafness syndrome, Hildebrand type Diaphanospondylodysostosis [se-atlas.de]

  In addition, they also have progressive acanthosis nigricans, CNS abnormalities, epilepsy and severe developmental delay [ 21 ]. [intechopen.com]

  The clinical features include global developmental delay, facial dysmorphism, narrow chest, prominent abdomen, and short stature due to limbs shorting. [mjdrdypu.org]

  Neurological Syndrome in LSDs Characteristics of neurological manifestations of LSDs are: – Most children have normal development for an initial and variable period. – At the onset of disease, global developmental delay is usually very subtle. – Once [clinicaladvisor.com]

• Hyperthermia

  Enviornmental Agents Fetal Alcohol Syndrome Fetal Hydantoin Syndrome Fetal Valproate Syndrome Fetal Warfarin Syndrome Fetal Aminopterin/Methotrexate Syndrome Retinoic Acid Embryopathy Fetal Varicella Syndrome Hyperthermia-Induced Spectrum of Defects S [geneeskundeboek.nl]

  Heel Pain: Heel Fat Pad Syndrome, Lateral Plantar Nerve Entrapment 292 Hematomas, Epidural and Subdural 294 Hematuria 298 Hemoglobinopathies in Sport: Thalassemia, Sickle Cell Trait 302 Herpes Gladiatorum 304 High-Altitude Illness 306 Hip Pointer 308 Hyperthermia [euro-libris.ro]

  […] dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple metaphyseal dysplasia Multiple non-ossifying fibromatosis Multiple osteochondromas Multiple pterygium syndrome Multiple pterygium-malignant hyperthermia [se-atlas.de]

• Fever

  Still’s disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still’s disease may lead to chronic arthritis and other complications. [checkrare.com]

  The reactions include one or more of the following: chills, fever, feeling hot or cold, dyspnea, nausea, flushing, headache, vomiting, paresthesia, fatigue, pruritus, pain in extremity, hypertension, chest pain, throat tightness, abdominal pain, dizziness [clinicaladvisor.com]

  Features Occasionally features evident at birth Short hallux and thumb evident at birth Egg shaped swellings appear first in neck, dorsal trunk & shoulder girdle which may be fluctuant with crepitus or hard from the outset Associated with low grade fever [flinders.edu.au]

• Gaucher Disease

  Bone marrow transplantation may benefit patients with skeletal dysplasia associated with congenital immune deficiencies, mucopolysaccharidosis, lipidosis, osteopetrosis, and Gaucher's disease. [patient.info]

• 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]

• Urticaria

  Dislocation, Hip, Posterior 126 Distal Clavicular Osteolysis 130 Dupuytren’s Contracture 132 Eating Disorders 134 Elbow Dislocation 136 Epistaxis 138 Exercise-Induced Anaphylaxis 140 Exercise-Induced Asthma 142 Exercise-Induced Diarrhea 144 Exercise-Induced Urticaria [euro-libris.ro]

  […] flushing, headache, vomiting, paresthesia, fatigue, pruritus, pain in extremity, hypertension, chest pain, throat tightness, abdominal pain, dizziness, tachycardia, nasal congestion, diarrhea, edema peripheral, myalgia, back pain, pallor, bradycardia, urticaria [clinicaladvisor.com]

• Erythema

  Papular-erythema with a reticulum pattern can be noted in patients with MPS1 and MPS2. Xanthomas and brownish discoloration of lesions can be seen in Niemann-Pick type A. Diffuse hirsutism is often seen in patients with MPSs. [clinicaladvisor.com]

• Ulcer

  Ellison, who gave their names to Zollinger–Ellison syndrome, after postulating the existence of a gastrin-secreting pancreatic tumor in a report of two cases of unusually severe peptic ulcers published in 1955. [103] In 2010, the WHO recommended that [en.wikipedia.org]

• Sweating

  […] potential for serious compression of the cervicomedullary spinal cord secondary to a narrow foramen magnum, cervical canal, or both. 43 – 48 Clinically, these infants can have central or obstructive sleep apnea, profound hypotonia, motor delay or excessive sweating [nature.com]

• Coxa Valga

  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]

  Name Ulna Metaphyseal Dysplasia Syndrome Synonyms METAPHYSEAL CHONDRODYSPLASIA, ROSENBERG TYPE Classification bone, developmental, genetic Phenotypes Abnormality of the vertebral column ; Autosomal dominant inheritance ; Coxa valga ; Delayed skeletal [mousephenotype.org]

  The legs bow outwards with variable deformity of the hips (both coxa vara and coxa valga are seen 1 ). The lower ribs may also be drawn inwards inferiorly by the attachment of the diaphragm ( Harrison's sulcus ). [radiopaedia.org]

  Delayed femoral head appearing, coxa valga or, on the contrary, coxa vara are common findings. Valgus deformity of the knees, associated to flexion contracture, is another common finding. [gait.aidi.udel.edu]

  The acetabulae and proximal ends of the femora were horizontal and coxa valga was present. 3. The twelfth thoracic vertebral body was hypoplastic and posteriorly displaced. The other vertebral bodies were oval and large calcaneal spurs were present. [czytelniamedyczna.pl]

• 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]

• Bony Swelling

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

  Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. [rarediseases.info.nih.gov]

• Hand Deformity

  Fairbank disease 0 *Foot Deformities, Congenital *Hand Deformities, Congenital *Osteochondrodysplasias. [reference.md]

  Hand deformities are essential for diagnosis and they are present in almost 100% of cases. Hands are short and broad and deviated because of the ulnar shortness. [gait.aidi.udel.edu]

• Long-Bone Deformity

  Note short-limbed skeletal dysplasia, deformed extremities, and relatively large head. Radiographs show short, thick, ribbonlike long bones with multiple fractures and callus formation at all sites (ribs, long bones). [emedicine.medscape.com]

• Somnolence

  […] fatigue, pruritus, pain in extremity, hypertension, chest pain, throat tightness, abdominal pain, dizziness, tachycardia, nasal congestion, diarrhea, edema peripheral, myalgia, back pain, pallor, bradycardia, urticaria, hypotension, face edema, rash, and somnolence [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]