Blackfan - Diamond Syndrome

• Congenital idiopathic red cell aplasia
• Hepatosplenomegaly
• Thrombocytopenia
• Steroid therapy required
• Recurrent pulmonary infection

Considerations:
• Check hemoglobin
• Consider stress-dose steroids

Aase-Smith Syndrome

General:
Joint abnormalities

Airway:
Cleft palate
LIMITED MOUTH OPENING

Cardiovascular:
VSD

Neurological:
Dandy-Walker malformation
hydrocephalus

Musculoskeletal:
Joint contractures

Considerations:
DIFFICULT INTUBATION
Positioning nightmare
SBE prophylaxis

Links:
Blackfan-Diamond Syndrome
Dandy-Walker malformation
References:

Aase Syndrome

General:
Variant of Blackfan-Diamond Syndrome

Cardiovascular:
Possible VSD

Musculoskeletal:
Radial hypoplasia

Other:
Anemia

Considerations:
Check hemoglobin
Radial artery catheterization challenge

Links:
Blackfan-Diamond Syndrome
References: