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Information Journal Paper

Title

LETTER TO EDITOR: ISOLATED LOWER LIMB PHOCOMELIA – A RARE LIMB MALFORMATION

Pages

  432-433

Abstract

PHOCOMELIA, ie the absence or severe hypoplasia of the long tubular bones with more or less intact hands and or feet, is widely known to be the most spectacular finding of thalidomide embryopathy. It may be complete in the form that proximal and distal bones of limb are absent or may be incomplete when either proximal or distal bones are missing. It is known to occur in some familial syndromes such as Roberts’s syndrome, the DK PHOCOMELIA syndrome and in a few other extremely rare syndromes.PHOCOMELIA syndromes are multiple MALFORMATIONs syndrome that includes skeletal, genitourinary such as renal agenesis, gastrointestinal system, eye abnormalties eg cloudy corneas, craniofacial abnormalities including silvery blonde hair, extensive hemangiomas and hypoplastic nasal cartilage. These syndromes include autosomal recessive form of VACTERL hydrocephaly syndrome (David-O’Callaghan syndrome), X-linked recessive form (Hunter Mac Murray) syndrome, DK-PHOCOMELIA (von Voss-Cherstvoy) syndrome and Laurin-Sandrow Syndrome (LSS).

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  • Cite

    APA: Copy

    BANSAL, PRIYANKA, BANSAL, AKHIL, & DEVI, SHITALMALA. (2012). LETTER TO EDITOR: ISOLATED LOWER LIMB PHOCOMELIA – A RARE LIMB MALFORMATION. IRANIAN JOURNAL OF PEDIATRICS, 22(3), 432-433. SID. https://sid.ir/paper/586059/en

    Vancouver: Copy

    BANSAL PRIYANKA, BANSAL AKHIL, DEVI SHITALMALA. LETTER TO EDITOR: ISOLATED LOWER LIMB PHOCOMELIA – A RARE LIMB MALFORMATION. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2012;22(3):432-433. Available from: https://sid.ir/paper/586059/en

    IEEE: Copy

    PRIYANKA BANSAL, AKHIL BANSAL, and SHITALMALA DEVI, “LETTER TO EDITOR: ISOLATED LOWER LIMB PHOCOMELIA – A RARE LIMB MALFORMATION,” IRANIAN JOURNAL OF PEDIATRICS, vol. 22, no. 3, pp. 432–433, 2012, [Online]. Available: https://sid.ir/paper/586059/en

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