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  • Table 4. Common congenital abnormalities associated with DBA syndrome
    Data on frequency are from DBA syndrome registry papers cited in the manuscript
  • Thrombocytopenia Absent Radius Syndrome
    Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital) It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radii) but with presence of thumbs
  • Brachydactyly type D - Wikipedia
    Brachydactyly type D, also known as murderer's thumb, [3] [1] stubbed thumb, [5] [6], spoon thumb, or short thumb, [5] [6] is a genetic trait recognised by a thumb being relatively short and round with an accompanying wider nail bed The distal phalanx of such thumbs is approximately two-thirds the length of full-length thumbs It is the most common type of shortness of digits (brachydactyly
  • Newborn with Arm Deformity | AAFP
    The absent radius, which is noticed immediately, combined with thrombocytopenia and normal thumbs, suggests the diagnosis Treatment consists of platelet transfusion for thrombocytopenia if
  • Congenital Hand Deformities - The Resident Review Podcast
    Thrombocytopenia absent radius syndrome (TAR): TAR or thrombocytopenia absent radius syndrome is an autosomal recessive disorder characterized by absent radius with relatively normal thumb, thrombocytopenia
  • Brachydactyly | Radiology Reference Article | Radiopaedia. org
    Brachydactyly essentially refers to short digits It is often inherited as an autosomal dominant trait (all the types) The clinical spectrum can widely range from minor digital hypoplasia to complete aplasia As a group, it most commonly involves the middle phalanx 2
  • Genetics of Hand and Arm Birth Differences - Congenital Hand and Arm . . .
    Radial deficiency with absent radius, 90 deviation of wrist, and missing thumb Madelung Deformity Madelungs is thought to be related to limited development of a portion of the growth plate of the distal radius but I believe it is more complex than this
  • Brachydactyly: What It Is and What It Means for Your Health - WebMD
    A brachydactyly thumb appears shorter and thicker than usual, with a wide, flat nail This is a harmless difference in most cases and only causes issues if it limits hand movement
  • Brachydactyly Types - Causes Outlook - Cleveland Clinic
    How common is brachydactyly? Most types of brachydactyly are rare, with the exception of type A3 and type D These two exceptions are more common and affect around 2% of the population





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