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., ...Daha Fazla

Pediatric Hematology and Oncology, cilt.12, sa.2, ss.153-158, 1995 (Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12 Sayı: 2
  • Basım Tarihi: 1995
  • Doi Numarası: 10.3109/08880019509029548
  • Dergi Adı: Pediatric Hematology and Oncology
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.153-158
  • Anahtar Kelimeler: Congenital anomalies, Congenital hypoplastic anemia, Corticosteroid therapy
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.