تسجيل الدخول

اعلانات





اعلانات
أحدث المواضيع
  • ملف العضو
  • معلومات
ta3lime
مدير عام
  • تاريخ التسجيل : Jun 2009
  • المشاركات : 17,335
  • معدل تقييم المستوى :

    100

  • ta3lime تم تعطيل التقييم
ta3lime
مدير عام
Aase syndrome
05-10-2010

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.
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

Signs may include:
  • Delayed closure of soft spots (fontanelles)
  • Mildly slowed growth
Tests that may be done include:
  • Bone marrow biopsy
  • Complete blood count (CBC)
  • Echocardiogram
  • X-rays

Treatment

Blood transfusions are given in the first year of life to treat anemia. 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.

When to Contact a Medical Professional

Call your health care provider if you notice possible signs of Aase syndrome in your child. Genetic counseling is recommended if you have a family history of Aase syndrome. Genetic counseling can help families understand issues such as how the disease is inherited, and the care, treatment, and possible outcome of the patient.

Prevention

There is no known prevention.

Alternative Names

Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome


  • ملف العضو
  • معلومات
الصورة الرمزية lakhdarr99
lakhdarr99
مشرف قسم تحضير شهادة التعليم المتوسط
  • تاريخ التسجيل : Oct 2011
  • الدولة : ouled attia.skikda.algeria
  • العمر : 22
  • المشاركات : 1,016
  • معدل تقييم المستوى :

    56

  • lakhdarr99 has a spectacular aura about lakhdarr99 has a spectacular aura about
الصورة الرمزية lakhdarr99
lakhdarr99
مشرف قسم تحضير شهادة التعليم المتوسط
12-05-2014

السلام عليكم ورحمة الله وبركاته

شـكــ وبارك الله فيك ـــرا لك ... لك مني أجمل تحية . شـكــ وبارك الله فيك ـــرا لك ... لك مني أجمل تحية .

__________________
قد أغيب عنكم للحظات ... لساعات أو أيام ... لكن روحي حواليكم وقلبي ينبض بِوُدِّكُم ... إذا اشتقتم إليَّ ابحثوا عنِّي بين كلماتي ... وإذا اشتقت إليكم أبحث عنكم بين ذكرياتي ...


الذين يشاهدون محتوى الموضوع الآن : 1 ( الأعضاء 0 والزوار 1)
 
أدوات الموضوع إبحث في الموضوع
إبحث في الموضوع:

البحث المتقدم


المواضيع المتشابهه
الموضوع
Aarskog syndrome
respiratory distress syndrome
Acute nephritic syndrome
متلازمة داون Down Syndrome
متلازمة جيلبرت Gilbert Syndrome
الساعة الآن 11:13 AM.
Powered by vBulletin
close
<
close