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Thrombocytopenia and Absent Radius (TAR Syndrome): A Rare Case Presenting in a Nine Day Old Neonate

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Description

Abstract
Thrombocytopenia absent radius syndrome (TAR) is
a rare genetic disorder that is apparent at birth. TAR
syndrome is inherited as an autosomal recessive trait.
This disorder is characterized by low levels of
platelets in blood (thrombocytopenia) resulting in
potential severe bleeding episodes primarily during
infancy. Other characteristic findings include
absence of the bone on the thumb side of the forearm
and underdevelopment or absence of the bone on the
radial side of the forearm. Other abnormalities may
also be present such as structural malfunctions of the
heart, kidneys and mental retardation that may be
secondary to bleeding episodes in the brain during
infancy.
Introduction
TAR SYNDROME is a rare genetic disorder. A case
of TAR syndrome is hereby presented because of its
rarity.

Case Report
AT is a nine-day-old female child who presented at
the orthopaedic clinic with history of abnormality of
both upper limbs. She was a product of a full term
pregnancy. The mother was immunized

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