Diamond-Blackfan anemia physical examination: Difference between revisions
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==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=== | ===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 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 therapy|steroid treatment]] | |||
==References== | ==References== | ||
Latest revision as of 01:53, 26 September 2020
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Diamond-Blackfan anemia Microchapters |
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Diamond-Blackfan anemia physical examination On the Web |
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American Roentgen Ray Society Images of Diamond-Blackfan anemia physical examination |
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Risk calculators and risk factors for Diamond-Blackfan anemia physical examination |
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%)