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822 Possible Causes for Hypoplasia of Terminal Phalanges, Nail Hypoplasia, Polychromasia in Peripheral Blood Smear

  • Congenital Dyserythropoietic Anemia Type 1

    Anisopoikilocytosis with tear-drop forms, polychromasia, basophilic stippling in peripheral blood smear, erythroid hyperplasia with megaloblastoid changes, binucleated cells[unboundmedicine.com] It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis.[genecards.org] There were multiple anomalies, including nail hypoplasia/aplasia and syndactyly of the feet (Figs. 1A and B).[journals.lww.com]

  • Cooks Syndrome

    The meta carpals and phalanges in the other fingers were normal. Figure 2. X-ray – both hands - Hypoplasia of the terminal phalanges of both little fingers.[oatext.com] The syndrome, which was first reported by Cooks et al in 1985, is characterised by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits 4-5 of the hands[ncbi.nlm.nih.gov] Abstract We describe a second family with four affected members in three successive generations with a rare nail dysplasia syndrome.[doi.org]

    Missing: Polychromasia in Peripheral Blood Smear
  • Congenital Dyserythropoietic Anemia

    Anisopoikilocytosis with tear-drop forms, polychromasia, basophilic stippling in peripheral blood smear, erythroid hyperplasia with megaloblastoid changes, binucleated cells[ncbi.nlm.nih.gov] It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis.[genecards.org]

    Missing: Hypoplasia of Terminal Phalanges
  • Pyknodysostosis

    […] of the terminal phalanges.[medical-dictionary.thefreedictionary.com] . - Autosomal recessive transmission - Chararacterized by: Osteosclerosis, Frontal and occipital bossing, Short stature, Short broad hands and hypoplasia of the nails, Often[radrounds.com] Patients present in early childhood with: short stature, particularly limbs delayed closure of cranial sutures frontal and occipital bossing short broad hands and hypoplasia[radiopaedia.org]

    Missing: Polychromasia in Peripheral Blood Smear
  • Brachydactyly

    Brachydactyly type B has classically been described as hypoplasia or absence of the terminal phalanges with absent nails.[ncbi.nlm.nih.gov] In conclusion, the association of nail anomalies with aplasia and/or hypoplasia of corresponding middle and/or distal phalanges supports the hypothesis of bone-dependent nail[ncbi.nlm.nih.gov] phalanges (terminal symphalangism).[ncbi.nlm.nih.gov]

    Missing: Polychromasia in Peripheral Blood Smear
  • Congenital Onychodysplasia

    , delayed closure of fontanels H- Koilonychia and dental abnormalities (Fig 5-11 to 5-13) I- Familial mandibuloacral dyspalasia32,33-abbreviated terminal club-shaped phalanges[sites.google.com] The osteoblast hyperactivity leads to obstruction of nerve canals and a large number of variable neurological abnormalities. 40 Nail hypoplasia of the fifth finger is seen[pocayo.com] In ouropinion, this is not the usual toe nail hypoplasia/dysplasia frequently seen in the fifth toe of adults,sometimes representing a familiar variant.[documents.tips]

    Missing: Polychromasia in Peripheral Blood Smear
  • Recessive Aplasia Cutis Congenita of Limbs

    Hands and feet X-ray of the child revealed hypoplasia of terminal phalanges of fingers and toes.[e-ijd.org] There is a wide range of severity in the limb defects, from something minimal like small or missing finger or toenails (called nail hypoplasia), to the more severe absence[encyclopedia.com]

    Missing: Polychromasia in Peripheral Blood Smear
  • Lytic Bone Lesion

    third phalangeal bone of fingers hypoplasia - Thick / bushy eyebrows Frequent - Abnormal fingernails - Abnormal vertebral size / shape - Anomalies of teeth and dentition[csbg.cnb.csic.es] Other clinical features are sclerodactyly and nail abnormalities (hypoplasia, fissuring, ridging, koilonychia).[emedicine.medscape.com] Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails[?] Aplastic anemia Apo A-I deficiency[?] Apolipoprotein C-II deficiency[?][encyclopedia.kids.net.au]

    Missing: Polychromasia in Peripheral Blood Smear
  • Chondrodysplasia Punctata

    It is an X-linked recessive disorder and is characterized by a flat nasal tip, short columella and maxillary hypoplasia, involvement of terminal phalanges, and stippled chondrodystrophy[ncbi.nlm.nih.gov] Others • Chromosomal - Trisomy 21 & 18 – stippling in sacrococcyx / calcaneo talus • Maternal SLE – hypoplastic nails, hypoplasia of facial bones, short distal phalanges,[slideshare.net] The typical clinical features are: flat nasal tip short columella maxillary hypoplasia involvement of terminal phalanges stippled chondrodystrophy Biochemical confirmation[en.wikipedia.org]

    Missing: Polychromasia in Peripheral Blood Smear
  • Facioauriculoradial Dysplasia

    Mild hypoplasia of the terminal phalanges of the deformed lower limb was present.[casesjournal.biomedcentral.com] [rarediseases.info.nih.gov] […] autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails, can be divided into brachydactyly type B1[symptoma.com] Dysplasia of the tarsal and the metatarsals and hypoplasia of the terminal phalanges were evident. There was relative left tibial hypoplasia.[casesjournal.biomedcentral.com]

    Missing: Polychromasia in Peripheral Blood Smear

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