Diamond-Blackfan anemia physical examination

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Common physical examination findings of DBA include signs of anemia such as pallor, tachycardia, and congenital abnormalities.

• Patients with DBA usually appear pale and with congenital malformations which is observed in approximately 50% of affected individuals):
  • Head and face (50%)
    • Microcephaly
    • Hypertelorism
    • Epicanthus
    • Ptosis
    • Microtia
    • low-set ears
    • Broad, depressed nasal bridge
    • Cleft lip/ Cleft palate
    • High arched palate
    • Micrognathia
    • low anterior hairline
  • Eye
    • Congenital glaucoma
    • Congenital cataract
    • strabismus
  • Neck
    • Webbed and short neck
    • Klippel-Feil anomaly
    • Sprengel deformity
  • Upper limb and hand including thumb (38%)
    • Absent radial artery
    • Flat thenar eminence
    • Triphalangeal, duplex, bifid, hypoplastic, or absent thumb
  • Genitourinary (19%).
    • Absent kidney
    • Horseshoe kidney
    • Hypospadias
  • Heart (15%)
    • Ventricular septal defect
    • Atrial septal defect
    • Coarctation of the aorta
  • Growth
    • Low birth weight (in 25% of affected infants)
    • Growth retardation(in 30%) that can be influenced by other factors including steroid treatment