THROMBOCYTOPENIA WITH ABSENT RADII (TAR) SYNDROME IN NEWBORN: A CASE REPORT
Journal
Medicus
Date Issued
2024
Author(s)
Mevlane Islami Limani
Renata Dimitrioska
Sanja Ristovska
Elena Shukareva
Abstract
Thrombocytopenia absent radius (TAR) syndrome is rare genetic disorder characterized by bilateral absence of the
radius in each forearm with the presence of the thumb and thrombocytopenia. TAR syndrome abnormalities include
various systems including skeletal, hematologic and malformations of the heart, kidneys and gastrointestinal
tract.
We present a female newborn born in 35 week of gestation from the first uneventful pregnancy of juvenile mother,
with birth weight of 2,550 grams. On physical examination was noted facial dysmorphia, bilateral short upper and
lower limbs, palpable one bone on forearm, radial club hand and flexion against the palm, flexion of the legs at
the knees and pedes equinovari. Complete blood count revealed thrombocytopenia (39x109/L). We performed X-ray
of upper limbs, which suggested absence of bilateral radius bone. Head, abdominal and urinary tract ultrasound
were normal. Heart ultrasound proofed foramen ovale and myocardial hypertrophy. Genetic analysis showed
microdeletion in 1q21.1, which confirmed our suspected diagnosis of TAR syndrome.
Patients with TAR syndrome require a multidisciplinary team of pediatricians, geneticists, orthopedists and
hematologists to monitor condition. Genetic counseling of the parents for future pregnancies is also necessary, as
well as regular antenatal examinations.
radius in each forearm with the presence of the thumb and thrombocytopenia. TAR syndrome abnormalities include
various systems including skeletal, hematologic and malformations of the heart, kidneys and gastrointestinal
tract.
We present a female newborn born in 35 week of gestation from the first uneventful pregnancy of juvenile mother,
with birth weight of 2,550 grams. On physical examination was noted facial dysmorphia, bilateral short upper and
lower limbs, palpable one bone on forearm, radial club hand and flexion against the palm, flexion of the legs at
the knees and pedes equinovari. Complete blood count revealed thrombocytopenia (39x109/L). We performed X-ray
of upper limbs, which suggested absence of bilateral radius bone. Head, abdominal and urinary tract ultrasound
were normal. Heart ultrasound proofed foramen ovale and myocardial hypertrophy. Genetic analysis showed
microdeletion in 1q21.1, which confirmed our suspected diagnosis of TAR syndrome.
Patients with TAR syndrome require a multidisciplinary team of pediatricians, geneticists, orthopedists and
hematologists to monitor condition. Genetic counseling of the parents for future pregnancies is also necessary, as
well as regular antenatal examinations.
File(s)![Thumbnail Image]()
Loading...
Name
thrombocytopenia.pdf
Size
7.08 MB
Format
Adobe PDF
Checksum
(MD5):2983d546af1f6be687ad1fcf280452f2