متلازمة آس ،
فقر الدم
Aase syndrome
Aase
syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.
Causes
Most cases of
Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases have been shown to be inherited.
This condition is similar to Diamond-Blackfan anemia, and the two conditions should not be separated. A missing piece on chromosome 19 is found in some people with Diamond-Blackfan anemia.
The anemia in
Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed.
Symptoms
Absent or small knuckles
Cleft palate
Decreased skin creases at finger joints
Deformed ears
Droopy eyelids
Inability to fully extend the joints from birth (contracture deformity)
Narrow shoulders
Pale skin
Triple-jointed thumbs
Exams and Tests
The doctor will perform a physical exam. Tests that may be done include:
Bone marrow biopsy
Complete blood count (CBC)
Echocardiogram
X-rays
Treatment
Treatment may involve blood transfusions in the first year of life to treat anemia.
A steroid medication called prednisone has also been used to treat anemia associated with
Aase syndrome. However, it should only be used after reviewing the benefits and risks with a doctor who has experience treating anemias.
A bone marrow transplant may be necessary if other
Treatment fails.
Outlook (Prognosis)
The anemia tends to improve with age.
Possible Complications
Complications related to anemia include:
Fatigue
Decreased oxygen in the blood
Weakness
Heart problems can lead to a variety of complications, depending on the specific defect.
Severe cases of
Aase syndrome have been associated with stillbirth or early death.
Prevention
Genetic counseling is recommended if you have a family history of this
syndrome and wish to become pregnant.
Alternative Names
Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome
02-25-2015, 03:04 AM
Aase syndrome ، Symptoms Aase syndrome ، Causes ، Treatment Aase syndrome ، Possible 2013 2014 2015
شكر
اعجاب
العرض الشجري