Thrombocytopenia-absent radius syndrome with ectopic-agenetic kidney in a neonate: Case report Trombositopeni-radius yokluǧu sendromlu bir yenidoǧanda ektopik-agenetik böbrek birlikteliǧi


Çakmak Çelik F., ÜNAL S., Coşkun E., Koçak H., Kara F. N.

Turkiye Klinikleri Pediatri, vol.19, no.2, pp.155-158, 2010 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 2
  • Publication Date: 2010
  • Journal Name: Turkiye Klinikleri Pediatri
  • Journal Indexes: Scopus
  • Page Numbers: pp.155-158
  • Keywords: Abnormalities, Infant, newborn, Thrombocytopenia
  • Lokman Hekim University Affiliated: Yes

Abstract

Thrombocytopenia-absent radius (TAR) syndrome is characterized by thrombocytopenia and absence of radius. This rare syndrome is inherited autosomal recessively. Hematologic, cardiac, skeletal and rarely renal abnormalities may be associated. A five days old neonate was referred to our clinics for multiple congenital anomalies. He had hypotelorism, micropthalmia, three fingers on the left, four fingers on the right hand (having bilateral thumbs), index fingers aplasia on the left hand, bilateral flexion contractures in elbow joints, syndactylia between 2nd and 3th feet fingers, microtia, increased helical convolutions, bilaterally short and radially deviated forearms. TAR syndrome was diagnosed due tothrombocytopenia and bilateral absence of radius. He had atrial septal defect and caryotype was 46, XY. Renal agenesia which did not reported before and ec-topic kidney were diagnosed. He died on the 12th day due to renal insufficiency. Finally, TAR syndrome should be kept in mind in aneonate with thrombocytopenia and associated renal anomalies should be examined. Copyright © 2010 by Türkiye Klinikleri.