Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Diamond-Blackfan anemia physical examination
Introduction
Overview
Overview
Common physical examination findings of DBA include signs of anemia such as pallor, tachycardia, and congenital abnormalities.
Physical Examination
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%)
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]