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91 Possible Causes for Hepatosplenomegaly with Extramedullary Hematopoiesis, Overfolded Superior Helix

  • FGFR2-Related Bent Bone Dysplasia

    NIH Rare Diseases : 53 Bent bone dysplasia syndromeis an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely[…][malacards.org]

  • Kleiner Holmes Syndrome

    , with extramedullary hematopoiesis (rare)]; #:Scaphocephaly and Axenfeld-Rieger anomaly [ Apache Tomcat/8.0.30 - Error report; H1H2H3BODYBPAA.name.line; HTTP Status 400 -[panelapp.genomicsengland.co.uk] superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] Bending of long bones to varying degrees, particularly femora; Prominent periosteum; Brachydactyly; Areas of periosteal reaction; Areas of deficient ossification; Hirsutism; Hepatosplenomegaly[panelapp.genomicsengland.co.uk]

  • Kaufman Oculocerebrofacial Syndrome

    The 3 female fetuses all displayed clitoromegaly, and 1 had hepatosplenomegaly with extramedullary hematopoiesis that was noted at autopsy.[findzebra.com] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] , with extramedullary hematopoiesis (rare) MOLECULAR BASIS: Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0043) Partial androgen insensitivity[findzebra.com]

  • Osteopetrosis

    hematopoiesis.[clinicaltrials.gov] In severe cases, there may also be hepatosplenomegaly with extramedullary hematopoiesis.[clinicaladvisor.com] In patients with severe disease, this high bone mass compromises bone marrow space leading to marrow failure and frequent infections, along with hepatosplenomegaly from extramedullary[clinicaltrials.gov]

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  • High Output Heart Failure

    Each of these were myeloproliferative disorders characterized by hepatosplenomegaly and extramedullary hematopoiesis, including primary and secondary myelofibrosis (n 8),[onlinejacc.org]

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  • Autosomal Dominant Osteopetrosis Type 2

    : from extramedullary hematopoiesis due to bone red marrow replacement In all osteopetrosis (whether AD or AR) there is a deficiency of osteoclast function and the result[radiopaedia.org] (extramedullary hematopoiesis) Lymphadenopathy Subarachnoid hemorrhage may occur (due to thrombocytopenia) May be associated with: Renal tubular acidosis Cerebral calcification[learningradiology.com] Among the other signs of this disease are failure to thrive, anemia, thrombocytopenia, hypokalemia, hepatosplenomegaly, esotropia, amblyopia, extramedullary hematopoiesis,[aeronline.org]

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  • Hypoxia

    hematopoiesis.[bloodjournal.org] Complications related to BTs are due to chronic hemolytic anemia, if not corrected, and include poor growth, jaundice from hemolysis, hepatosplenomegaly, and extramedullary[bloodjournal.org]

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  • Primary Myelofibrosis

    It is characterized by bone marrow fibrosis, extramedullary hematopoiesis with hepatosplenomegaly and leukoerythroblastosis in the peripheral blood.[ncbi.nlm.nih.gov] hematopoiesis, hepatosplenomegaly and bone marrow fibrosis.[bloodjournal.org] They subsequently colonize these organs, mainly liver and spleen, which results in extramedullary hematopoiesis and hepatosplenomegaly.[symptoma.com]

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  • Beta Thalassemia

    , leg ulcers, development of masses from extramedullary hematopoiesis, and skeletal changes that result from expansion of the bone marrow.[ncbi.nlm.nih.gov] Extramedullary hematopoiesis and splenic hemolysis often result in hepatosplenomegaly..[pathwaymedicine.org] hematopoiesis in the skull Physical exam β-tha lassemia major form hepatosplenomegaly due to chronic hemolysis, additionally exacerbated by extramedullary hematopoiesis in[medbullets.com]

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  • Physiological Neonatal Jaundice

    Extramedullary hematopoiesis also occurs in these organs in response to anemia.[pathophys.org] Pallor Anemia Hepatosplenomegaly Extravascular hemolysis occurs in the spleen and liver, which sequesters damaged RBCs.[pathophys.org]

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