Diamond-Blackfan anemia physical examination: Difference between revisions
Jump to navigation
Jump to search
| (2 intermediate revisions by the same user not shown) | |||
| Line 5: | Line 5: | ||
==Overview== | ==Overview== | ||
Common physical examination findings of DBA include signs of anemia such as pallor, tachycardia, and congenital abnormalities. | 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%) | **'''Head and face''' (50%) | ||
***Microcephaly | ***[[Microcephaly]] | ||
*** | ***[[Hypertelorism]] | ||
***Epicanthus | ***[[Epicanthus]] | ||
***Ptosis | ***[[Ptosis]] | ||
***Microtia | ***[[Microtia]] | ||
***low-set ears | ***[[low-set ears]] | ||
***Broad, depressed nasal bridge | ***Broad, depressed [[nasal bridge]] | ||
***Cleft lip/palate | ***[[Cleft lip]]/ [[Cleft palate]] | ||
***High arched palate | ***[[High arched palate]] | ||
***Micrognathia | ***[[Micrognathia]] | ||
***low anterior hairline | ***low anterior hairline | ||
**'''Eye''' | **'''Eye''' | ||
***Congenital glaucoma | ***[[Congenital]] [[glaucoma]] | ||
***Congenital cataract | ***[[Congenital]] [[cataract]] | ||
***strabismus | ***strabismus | ||
**'''Neck''' | **'''Neck''' | ||
*** | ***[[Webbed neck|Webbed]] and short neck | ||
***Klippel-Feil anomaly | ***[[Klippel-Feil anomaly]] | ||
***Sprengel deformity | ***[[Sprengel deformity]] | ||
**'''Upper limb and hand including thumb''' (38%) | **'''Upper limb and hand including thumb''' (38%) | ||
***Absent radial artery | ***[[Absent]] [[radial artery]] | ||
***Flat thenar eminence | ***Flat [[thenar eminence]] | ||
*** Triphalangeal, duplex, bifid, hypoplastic, or absent thumb | *** Triphalangeal, duplex, bifid, hypoplastic, or absent thumb | ||
**'''Genitourinary''' (19%). | **'''Genitourinary''' (19%). | ||
***Absent kidney | ***Absent kidney | ||
*** | ***[[Horseshoe kidney]] | ||
*** | ***[[Hypospadias]] | ||
**'''Heart''' (15%) | **'''Heart''' (15%) | ||
**Ventricular septal defect | ***[[Ventricular septal defect]] | ||
***Atrial septal defect | ***[[Atrial septal defect]] | ||
*** | ***[[Coarctation of the aorta]] | ||
**'''Growth''' | **'''Growth''' | ||
***Low birth weight (in 25% of affected infants) | ***[[Low birth weight]] (in 25% of affected infants) | ||
*** Growth | *** [[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
|
Diamond-Blackfan anemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Diamond-Blackfan anemia physical examination On the Web |
|
American Roentgen Ray Society Images of Diamond-Blackfan anemia physical examination |
|
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%)