Congenital hypoplastic anemia in six patients: Unusual association of short proximal phalanges with mild anemia

ÇETİN M., Kara A., GÜRGEY A., GÜMRÜK F., Irken G., YETGİN S., ...More

Pediatric Hematology and Oncology, vol.12, no.2, pp.153-158, 1995 (Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 2
  • Publication Date: 1995
  • Doi Number: 10.3109/08880019509029548
  • Journal Name: Pediatric Hematology and Oncology
  • Journal Indexes: Scopus
  • Page Numbers: pp.153-158
  • Keywords: Congenital anomalies, Congenital hypoplastic anemia, Corticosteroid therapy
  • Hacettepe University Affiliated: Yes


Six congenital hypoplastic anemia (CHA) patients from five families who have been followed from 2 months to 28 years are presented. Mild hypoplastic anemia in a 13-year-old girl was associated with clinodactyly of the fifth finger on both hands, shortness in the proximal phalanges on all fingers, and syndactyly between the second and third toes and short fourth toe on the right foot. These abnormalities, except for clinodactyly, have not been reported previously in CHA. In one of the five families genetic transmission was thought to be autosomal-dominant since both the father and the son had the disease. Therapy with corticosteroids was initiated in allpatients at the ages of 3.5 months to 13 years. Complete or near-complete recovery of anemia was obtained. © 1995 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.