International Journal of Human and Health Sciences Vol. 02 No.

02 April’18

Case Report:

Thrombocytopenia with absent radii (TAR) Syndrome in a male child: report of a rare case.
Jana K 1,Chakraborty T 2, Ghosh T K 3,Ghosh S 4, Pathak S 5

Abstract:
Introduction: Thrombocytopenia with absent radii (TAR) Syndrome is a rare congenital
defect presents with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia
and preserved thumb. Case presentation: A three and half year’s old male baby born out of
non-consanguineous marriage with thrombocytopenia and bilateral absence of radius. Such
type of anomaly has been previously reported in the children of a non- consanguineous
marriage was few. Conclusions: Though rare incidence, all thrombocytopenia with any
skeletal deformity cases in newborn or infancy to toddler age group must be thoroughly
investigated to exclude TAR syndrome. Case is presenting here because of rarity.
Keywords: Thrombocytopenia, Absent of radius, TAR syndrome.

International Journal of Human and Health Sciences Vol. 02 No. 02 April’18 Page : 91-93

Introduction: out of non-consanguineous marriage.Pregnancy

Thrombocytopenia with absent radii (TAR)
syndrome is an autosomal recessive genetic rare
disorder. Hypo megakaryocytic thrombocytopenia
and bilateral absent of radius that may have
an additional anomalies1.  It was first described
in 1929 but designated as a syndrome in 1969
by Hall et al2. It is not a variant of Fanconi’s
anemia3. The two consistently essential features
are hypomegakaryocytic thrombocytopenia and
bilateral radial aplasia. The other associated
features are limb abnormalities, intermittent
leukocytosis, eosinophilia,cardiac defects,
renal anomalies, mental retardation, and milk
protein allergy4. The most important cause of
mortality among children with TAR syndrome is
bleeding. The rate of mortality in this syndrome
primarily depends on the platelet count and other
accompanied anomalies. The most frequent cause
of death was due to the intracranial bleeding,
especially during the first two years of life5,6.
Case Report:
A three and half years old male child was born
was uneventful .No history of significant maternal
illness during pregnancy. The primi gravida
mother without any, history of abortion was
healthy throughout the gestational period and had
normal vaginal delivery. The baby had normal
weight at birth and no evidence of prematurity
at birth. Family history was not significant.
Since birth till six month baby had no significant
complain and reported to orthopaedic department
for orthopaedic problem.
Investigation reports:
Face-not dysmorphic, normal intelligence
(fig-1). Complete blood count showed only
thrombocytopenia (11,000/µl). Bone marrow
aspiration study showed markedly reduced
megakaryocyte. Orthopedic evaluation showed
bilateral absence of radius with preserved thumb
and functional fingers on each hand. No other
skeletal deformity noted (Fig-II). USG-whole
abdomen showed mild hepatomegaly and
absence of right kidney but the patient had no
kidney related problem. 2D Echocardiography

1. Dr Kabyashree Jana. PGT, Department of Pathology.

2. Dr Tirthankar Chakraborty. PGT, Department of Pathology.
3. Dr Tapan Kumar Ghosh. Director RBTC, Bankura.
4. Dr Sulekha Ghosh. Professor, Department of Pathology.
5. Dr Swapan Pathak. Professor, HOD, Department of Pathology.
Department of Pathology, Bankura Sammilani Medical College, Bankura

Correspondence to: Dr Kabyashree Jana PGT, Department of Pathology. Flat no 4G,Oasis

Residency.Nutanchati,Bankura,Pin:-722101 Mail:-tubaitubai@gmail.com mobile+91 9832176689

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 International Journal of Human and Health Sciences Vol. 02 No. 02 April’18
showed patent foramen ovale and small sub-
aortic ventricular septal defect (VSD)
Discussion:
The thrombocytopenia-absent radius (TAR)
syndrome is a congenital malformation syndrome
characterized by bilateral absence of the radii
and a thrombocytopenia. The lower limbs,
gastrointestinal, cardiovascular, and other systems
may also be involved. Shaw and Oliver in 1959
were the first to describe this condition, but it was
Hall et al in 1969 who reported the first major
series of patients. In this reported case isolated
thrombocytopenia and bilateral absence of radius
with preserved thumb and functional fingers
on each hand, with absence of right kidney and
cardiac problem patient was diagnosed as TAR
syndrome. Varying degrees of thrombocytopenia,
present in 100% of diagnosed cases with TAR
syndrome2. In earlier studies researchers found
that patients with TAR syndrome were usually
diagnosed at birth, due to thrombocytopenia
as they present with petechial rash or bleeding
manifestation like bloody diarrhea in the first week
of life or later during the next four months. Platelet
counts at birth are usually 15,000 to 30,000/uL (4,
7) but in present case it was not found at neonatal
life. Present case presented at 6 month with few
petechial rashes with platelets count of 11000/
μL. PBS and bone marrow examination shows
isolated hypo megakaryocytic thrombocytopenia.
Thepresenting case also ruled out other possible
cause of thrombocytopenia.
Though the exact cause of thrombocytopenia
in TAR syndrome is not clearly known but the
possibilities are a) the absence of humoral or
cellular stimulators of megakaryocytopoiesis  (b)
92
the absence of megakaryocytic progenitor
cells (c), cellular defects in megakaryocytic
precursors (for example, receptor defects) or (d)
the presence of humoral or cellular inhibitors
of megakaryocytopoiesis (2). Bone marrow
examination showed marked reduction of
megakaryocytes in this presenting case (1).
The other most important sign of TAR syndrome
is bilateral absence of radii. The upper limb
abnormalities range from isolated absent radii with
preserved thumbs like this case, to phocomelia.
The etiology of radial aplasia in TAR syndrome is
a primary failure of chondrogenesis. Lower limb
abnormality occurs in 46% cases, but less severe
than upper limb defects (8). The presenting case
showed bilateral absence of radius with preserved
thumb and functional fingers on each hand. No
other skeletal deformity noted.
Congenital heart anomalies (Tetralogy of Fallot,
atrial and ventricular septum anomalies) appeared
in 22-33 % of such cases (2,3).Patent foramen
ovale and small sub-aortic ventricular septal
defect (VSD) were cbserved in presenting case.
In 2000 there was first report of horseshoe kidney
in association with TAR syndrome followed by a
clinical study of 34 cases with TAR syndrome in
2002 where horseshoe kidney was noted in two
cases9. But our case presented with absence of
right kidney comparetively in high age was rarely
reported.
Conclusion:
TAR syndrome though rare but in new born babies
and infants with thrombocytopenia and bloody
diarrhoea even, all thrombocytopenia with any
skeletal deformity cases in newborn or infancy to
toddler age group must be thoroughly investigated
to exclude TAR syndrome.
 International Journal of Human and Health Sciences Vol. 02 No. 02 April’18
FigI Photograph of boy showing bilateral absent of
radii.
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Fig II X-Ray photography showing bilateral absent of
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