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

• Short Stature

  The first patient was a 10-year-old boy, who had short stature and enchondromatous-like lesions in the metaphyses of the long bones and platyspondyly on radiography. [ncbi.nlm.nih.gov]

  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]

• Anemia

  We also noted that six individuals had clinical manifestations of autoimmunity (auto-immune thrombocytopenic purpura, auto-immune hemolytic anemia, auto-immune thyroiditis, and SLE) and one had been diagnosed with immune deficiency. [ncbi.nlm.nih.gov]

  […] 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 terms) hemolytic anemia [orpha.net]

  He was diagnosed with autoimmune hemolytic anemia (AIHA) at the age of three months. He received glucocorticoid treatment for two months and required no further treatment thereafter. The sister’s height was 113 cm (−3.29 SDS). [abstracts.eurospe.org]

  […] 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 terms) hemolytic anemia [rarediseases.info.nih.gov]

  The malfunctioning immune system can lead to a variety of disorders, such as a decrease in blood cell fragments called platelets (thrombocytopenia), premature destruction of red blood cells (hemolytic anemia ), an underactive thyroid gland (hypothyroidism [ghr.nlm.nih.gov]

• Developmental Delay

  Seven individuals had CNS manifestations including spasticity, developmental delay, and late-onset cerebral calcifications. [ncbi.nlm.nih.gov]

  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]

  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]

  Patients may exhibit varying degrees of neurological impairment including spasticity, developmental delay, and basal ganglia calcification. In addition, signs of autoimmune disease resembling systemic lupus erythematosus (SLE) are commonly observed. [genome.jp]

  delay FAM111A Kenny-Caffey syndrome, Osteocraniostenosis FBN1 Acromicric dysplasia FBN2 Arachnodactyly, cong. [skeldys.org]

• Lymphedema

  […] and yellow nails (LYYN) FOXC2+del Lymphedema with distichiasis (LYD) FOXC2+del Lymphedema, hereditary (LMPH) GJC2, FOXC2+del Lymphedema-distichiasis syndrome (LYDS) FOXC2+del Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus FOXC2 [uniklinik-freiburg.de]

  Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations. Molecular Syndromology, 4(3), 107-113. [sydney.edu.au]

  […] polydactyly IFT172 Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly IHH Acrocapitofemoral dysplasia, Brachydactyly, Syndactyly type Lueken IKBKG Ectodermal, dysplasia, anhidrotic, lymphedema [genda.com.ar]

• 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]

  Her thrombocytopenic purpura didn't resolve with the use of either prednisone or intravenous immunoglobulin, but it did after a splenectomy was performed on her. [en.wikipedia.org]

• Ectopia Lentis

  Ectopia Lentis Phenotypes And The Fbn1 Gene. American Journal of Medical Genetics, Part A, 126A (3), 284-289. [More Information] Balmer, R., Cameron, A., Ades, L., Aldred, M. (2004). Enamel Defects And Lyonization In Focal Dermal Hypoplasia. [sydney.edu.au]

  lentis and with or without secondary glaucoma, Weill-Marchesani syndrome MATN3 Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type MMP9 Metaphyseal anadysplasia NEK1 SRPS type 2 (Majewski), Short -rib thoracic [genda.com.ar]

  lentis, familial (EL) FBN1+del Ectopia lentis, isolated, autosomal dominant FBN1+del Ectopia pupillae PAX6+del Ectrodactyly, autosomal recessive WNT10B Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) TP63 (=p63) EEC syndrome [uniklinik-freiburg.de]

• Hair Hypoplasia

  SPENCDI should be included in the differential diagnosis of other skeletal dysplasias with immune involvement, such as Schimke type immuno-osseous dysplasia and cartilage hair hypoplasia. [abstracts.eurospe.org]

  NPR2 Acromesomelic dysplasia, Maroteaux OBSL1 3-M syndrome PAPSS2 SEMD PDE4D Acrodysostosis 2 PHEX Hypophosphatemic rickets PLOD1 EDS, kyphoscoliotic PLOD2 Bruck syndrome 2 PPIB OI, recessive PRKAR1A Acrodysostosis 1 PYCR1 Cutis laxa, 2B RMRP Cartilage-Hair-Hypoplasia [skeldys.org]

  Hypoplasia 8 IV Predominant Epiphyseal involvement Pseudoachondroplasia 2 36 Sl no. [slideplayer.com]

  STIL Microcephaly TSEN2 Pontocerebellar hypoplasia TSEN54 Pontocerebellar hypoplasia TUBB2B Polymicrogyria, asymmetric VRK1 Pontocerebellar hypoplasia WDR62 Microcephaly ADAMTS10 Weill-Marchesani syndrome ADAMTSL2 Geleophysic dysplasia BMPR1B Acromesomelic [genda.com.ar]

  A cartilage hair hypoplasia patient was found to have aseptic arthritis [33], while another patient was found to have brachydactyly and femoral bone widening [34]. [symbiosisonlinepublishing.com]

• Platyspondyly

  The first patient was a 10-year-old boy, who had short stature and enchondromatous-like lesions in the metaphyses of the long bones and platyspondyly on radiography. [ncbi.nlm.nih.gov]

• Lordosis

  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]

  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]

  […] absent Usually of lateral portion R > L Clavicles completely absent in 10% Thorax may be narrowed and/or bell-shaped Small scapulae Supernumerary ribs Incompletely ossified sternum Spine Hemivertebrae, spondylosis (frequent) Exaggerated kyphosis or lordosis [learningradiology.com]

• Severe Short Stature

  […] of severe, proportionate short stature. [karger.com]

  The most common physical finding is short stature. [en.wikipedia.org]

• Muscle Spasticity

  These include ataxia, muscle spasticity, intellectual disabilities, and cerebral calcification. [en.wikipedia.org]

• 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]

• Short Neck

  Case presentations: 7 years 2 months old boy and his 9 yrs old sister were evaluated for short stature. On physical examination the brother had a round face, short neck, lumber lordosis and pes planus. [abstracts.eurospe.org]

• Cerebral Calcification

  Seven individuals had CNS manifestations including spasticity, developmental delay, and late-onset cerebral calcifications. [ncbi.nlm.nih.gov]

  Definition A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. [uniprot.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]

  One case of fatal encephalitis. [109] Some cases with spasticity, cognitive delay or deficits, and/or developmental delay, and cerebral calcifications (late-onset). [109] [110] Auditory: Normal hearing. Recurrent or frequent otitis media. [autoinflammatory-search.org]

• 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]

• Akinesia

  […] heterotopia DHCR7 Smith-Lemli-Opitz syndrome DHCR24 Desmosterolosis DIS3L2 Perlman syndrome DLL3 Spondylocostal dysostosis DLL4 Adams-Oliver syndrome DLX3 Amelogenesis imperfecta, Trichodontoosseous syndrome DNM2 Charcot-Marie-Tooth disease, Lethal akinesia [genda.com.ar]

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]

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]

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]

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]

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

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]

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]

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]

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]