THROMBOCYTOPENIA WITH ABSENT RADII (TAR) SYNDROME IN NEWBORN: A CASE REPORT

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.