Diamond-Blackfan anemia physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Common physical examination findings of DBA include signs of anemia such as pallor, tachycardia, and congenital abnormalities.
Physical Examination
Appearance of the Patient
- 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%)
- Growth
- Low birth weight (in 25% of affected infants)
- Growth retardation(in 30%) that can be influenced by other factors including steroid treatment
- Head and face (50%)