This report presents clinical and laboratory data of three patients diagnosed with SPENCD-associated SLE. [ncbi.nlm.nih.gov]

We present here two siblings born to consanguineous parents with genetically proven SPENCDI. Case presentations: 7 years 2 months old boy and his 9 yrs old sister were evaluated for short stature. [abstracts.eurospe.org]

• Splenectomy

  The sister’s AIHA was difficult to manage and required splenectomy. At the age of 8 years 4/12 the brother developed systemic lupus erythemasosus which was managed with steroids and immune suppressors. [abstracts.eurospe.org]

• Cushingoid

  Physical examination was normal except short stature and Cushingoid appearance of the face. Both patients were prepubertal. Both patients had AIHA, short stature, metaphyseal changes and platyspondyly compatible with SPENCD. [abstracts.eurospe.org]

• Recurrent Sinusitis

  […] otitis media ; Recurrent respiratory infections ; Recurrent sinusitis ; Restrictive ventilatory defect ; Short stature ; Spastic diplegia ; Spondylometaphyseal dysplasia ; Tubulointerstitial fibrosis ; Vitiligo Associated Genes ACP5 (Withdrawn symbols [mousephenotype.org]

• Recurrent Bacterial Infection

  Thus, in addition to autoimmune haemolytic anaemia, thrombocytopenia, polyarthritis, hepatitis and nephritis, the patient presented with life threatening hyperreactivity to viral infections as well as recurrent bacterial infections. [ped-rheum.biomedcentral.com]

• Barrel Chest

  Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present. [ncbi.nlm.nih.gov]

• Respiratory Insufficiency

  At 5.5 years of age, she presented with a high fever, generalized vasculitis, encephalopathy with seizures and respiratory insufficiency due to interstitial pneumonia requiring 2 days of mechanical ventilation. [ped-rheum.biomedcentral.com]

• Aphthous Stomatitis

  In the following months, the patients experienced recurrent infections affecting the urinary tract and upper airways as well as an episode of severe aphthous stomatitis accompanied by Quinke oedema of the face. [ped-rheum.biomedcentral.com]

• Purpura

  Thrombocytopenic, Idiopathic/genetics* Purpura, Thrombocytopenic, Idiopathic/immunology Purpura, Thrombocytopenic, Idiopathic/pathology Tartrate-Resistant Acid Phosphatase/deficiency Tartrate-Resistant Acid Phosphatase/genetics* Tartrate-Resistant Acid [ncbi.nlm.nih.gov]

  Idiopathic thrombocytopenic purpura (ITP). [autoinflammatory-search.org]

  SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these [orpha.net]

  Juvenile onset ; Juvenile rheumatoid arthritis ; Kyphoscoliosis ; Low-set ears ; Lumbar hyperlordosis ; Lymphadenopathy ; Metaphyseal irregularity ; Metaphyseal sclerosis ; Narrow nose ; Platyspondyly ; Pneumonia ; Progressive spastic quadriplegia ; Purpura [mousephenotype.org]

• Skin Patch

  IMMUNOSKELETAL SYNDROME, SPENCD Classification unclassified Phenotypes Autoimmune thrombocytopenia ; Autosomal recessive inheritance ; Cellular immunodeficiency ; Combined immunodeficiency ; Decrease in T cell count ; Hypermelanotic macule ; Hypopigmented skin [mousephenotype.org]

• Petechiae

  In addition, the girl developed recurrent petechiae of the face, erythema nodosum of the feet as well as mild sugillations of the oral mucosa despite normal platelet counts. [ped-rheum.biomedcentral.com]

• Spine Stiffness

  At the age of 17, progressive spine stiffness associated with stooping posture developed. 3DCT scanning showed pathological transformation of the spinal enchondromas into generalized ossification and thickening of the posterior vertebral elements (vertebral [ncbi.nlm.nih.gov]

• Round Face

  On physical examination the brother had a round face, short neck, lumber lordosis and pes planus. Height was 100 cm (−4.43 SDS) with risomelia (arm span/height ratio: 0.97). [abstracts.eurospe.org]

• Clumsiness

  Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present. [ncbi.nlm.nih.gov]

• Neurologic Manifestation

  Patients with SPENCDI and neurological manifestations including spasticity, developmental delay and cerebral calcifications have been reported. We present here two siblings born to consanguineous parents with genetically proven SPENCDI. [abstracts.eurospe.org]

Other than a low baseline IGF-1, extensive laboratory workup, including growth hormone stimulation and IGF-1 generation tests, was normal. Exome sequencing was performed. [karger.com]

He received glucocorticoid treatment for two months and required no further treatment thereafter. The sister’s height was 113 cm (−3.29 SDS). She was diagnosed with AIHA at the age of 2.5 years and she was receiving methyl prednisolone ever since. [abstracts.eurospe.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Routine follow-up with conservative treatment were conducted for 12 months. [ncbi.nlm.nih.gov]

Treatment of Congenital Pseudarthrosis of Tibia Treatment of congenital pseudarthrosis of the tibia is surgical. In its natural progression, the deformity and shortening worsen. [boneandspine.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The prognosis is good if the lesion is located only on the fibula, an extension to the tibia has a prognosis similar to type II, Type VI Associated with an intraosseous fibroma or a schwannoma. [boneandspine.com]

Prognosis The prognosis is dependent on the extent and severity of the disease. Cortical erosion, pathological fracture and extension of the tumor into soft tissues can be considered as a sign of malignancy. [atlasgeneticsoncology.org]

[…] osteogenesis imperfecta, but are most often a normal variant Treatment Dental problems may require frequent oral care Genetic counseling if there is a family or personal history of cleidocranial dysostosis and the individual is planning to have children Prognosis [learningradiology.com]

[…] neurogenic shock, spinal shock, autonomic dysreflexia Functional Anatomy: PNS Peripheral nerves and function, Wallerian degeneration, injuries (stretch, laceration, compression), classification of injuries (neuropraxia, axonotmesis, neurotmesis), treatment, prognosis [orthobasicscienceacademy.org]

Because widely distributed enchondromas may pose fewer problems than localized ones (eg, limb shortening, asymmetry), it is difficult to assess the prognosis of Ollier disease ( Table 6 ). [healio.com]

Etiology : Etiology Mutation in the gene for fibroblast growth factor receptor-3 The mutation is always at the same nucleotid, this is said to be the single most mutable nucleotide in human FGFR3 act on growth plate to regulate linear growth (proliferation [authorstream.com]

Resumen (en_US) The clinical case of a 9-year-old patient derived from Orthopedics to the Institute of Genetics at Universidad Nacional de Colombia due to a longstanding medical history of multiple bony outgrowths that required surgical management without etiologic [revistas.unal.edu.co]

Congenital pseudarthrosis of the tibia: History, etiology, classification, and epidemiologic data. J Pediatr Orthop B. 2000;9:11– 5. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. [boneandspine.com]

The etiological diagnosis of SPENCD in these two patients with previously presumed idiopathic short stature has important clinical implications in terms of screening for subclinical comorbid autoimmune or neurological disease, as well as more accurate [karger.com]

This review highlights the different manifestations, including infectious as well as noninfectious etiologies that may occur in the skeletal system of patients with primary Immunodeficiencies. [symbiosisonlinepublishing.com]

Updated Molecular and Epidemiologic diagrams added to all new chapters. [books.google.com]

Neoplasia - Treatment & Complications Chemotherapy, radiotherapy, sequela of neoplasia treatment Vasculopathies - Part I Virchows triad, epidemiology, prophylaxis (mechanical, pharmacological), medications (Warfarin, ASA, heparin, LMWH, Factor X inhibitors [orthobasicscienceacademy.org]

Clinical epidemiology of skeletal dysplasias in South America. Am J Med Genet A May;158A(5): *Kulkarni ML, Samuel K, Bhagyavathi M, Sureshkumar C. Skeletal dysplasias in a hospital in Southern India. [slideplayer.com]

Congenital pseudarthrosis of the tibia: History, etiology, classification, and epidemiologic data. J Pediatr Orthop B. 2000;9:11– 5. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. [boneandspine.com]

Registry data has been used in epidemiological studies to gauge PID prevalence: 5.38/100,000 in France, 5.6/100,000 in Australia, USA 86.3/100,000 inhabitants [8]. [symbiosisonlinepublishing.com]

A relationship with type 1 neurofibromatosis or von Recklinghausen’s disease is known but exact pathophysiology has still not been clearly defined. [boneandspine.com]

In addition to the main pathophysiologic finding of fibro-osseous bone formation, craniosynostosis has been reported in Cherubism syndrome, where a mutation in SH3BP2 causes bone degeneration in the jaws [137]. [symbiosisonlinepublishing.com]

However, the technical factors should not be changed to obscure or change the interpretation of the pathophysiologic changes. [basicmedicalkey.com]

The modified Spranger classification system is widely used to address types of enchondromatosis, and the common subtypes are listed in Table 2. 17 Table 2: Classification of Multiple Enchondromatosis Pathophysiology The pathogenesis of enchondromatosis [healio.com]

These labs include Blueprint Genetics, Invitae, Fulgent, Prevention Genetics, MNG Labs, and GeneDx. [saidsupport.org]

Close collimation is extremely important to prevent undercutting the image. [basicmedicalkey.com]

Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition. [ citation needed ] Spondyloepiphyseal dysplasia congenita is inherited [en.wikipedia.org]

If the procedure is combined with intramedullary nailing, it prevents re- fracture rate significantly. [boneandspine.com]

[…] equipment, electrocautery principles, suture types and selection (contraindications), anchor selections, tables (Jackson, Beach chair, traction table, implications like hypotension / perineal nerve injuries, venous pooling, etc), padding and positioning to prevent [orthobasicscienceacademy.org]