DIAGNOSIS

Diagnosis

 The diagnosis of AOS is a clinical diagnosis based on the specific features described above. A system of major and minor criteria was proposed.
 The combination of two major criteria would be sufficient for the diagnosis of AOS, while a combination of one major and one minor feature would be suggestive of AOS. There is currently no genetic testing that can be performed in order to confirm or rule out this condition.

Major features
                             Minor features
     Terminal transverse limb defects                                 Cutis marmorata
        Aplasia cutis congenita                               Congenital heart defect
          Family history of AOS                                 Vascular anomaly

Management

Management of AOS is largely symptomatic and aimed at treating the various congenital anomalies present in the individual. When the scalp and/or cranial bone defects are severe, early surgical intervention with grafting is indicated.

Prognosis

The overall prognosis is excellent in most cases. However, individuals with more severe scalp and cranial defects may experience complications such as hemorrhage and meningitis, leading to long-term disability.

Epidemiology

AOS is a rare genetic disorder and the annual incidence or overall prevalence of AOS is unknown. Approximately 100 individuals with this disorder have been reported in the medical literature.

Daisys Diagnosis
  • Adams-Oliver Syndrome
  • A Skull Defect (abundant Skull) 15cm x 15cm at Birth
  • Artery Septal Defect (ASD) - 6mm Hole in Heart
  • Pulmonary arterial Steirnosis - Narrowing of Artery's in/out of Heart
  • Cuitis Aplasia (abundant skin,with underlining skull missing)
  • Terminal Limb Defects
  • Abnormal Feet, extremely small
  • Webbed toes
  • Over lapping toes
  • Absent end of toes and nails
  • Abnormal undeveloped Limbs
  • Undeveloped hands (small/short fingers)
  • Apnoea (Randomly stops breathing)
  • Right Ventricular dilation
  • Systolic Murmur at Apex of Heart
  • CSF loss,now under control
  • Slow development, Physically
  • Compromised immune, due to antibiotics daily since Birth
We don't know the future,  the Doctors seems to have varied thoughts. We are treating all Daisy medical problems with all the relevant different professionals. Hence always attending appointments!  Daisy now 2years is still left with a large Skull/Cranial defect (7cm x 6cm) Doctors at Great Ormond Street, don't think it will decrease any more. Her Skin/scalp has covered the head (as skin was also missing at Birth) The fresh new skin is thin, weak and needs to mature. Daises skin will take years to mature and heal enough for her operation therefore, we simple do our best to promote the development of the skin. Daisy should only wear her helmet when out,or as little as possible. Giving the skin air, promoting skin growth and natural development.
 Adams-Oliver syndrome is a rare genetic Birth Defect.  It effects the early fetal development, leaving suffers varied levels of symptoms. Daisy condition was undetected in our Neo-natal scans, she was diagnosed days after Birth.
   There is Continued Research at Harvard medical centre (US).  The Gene that is damaged has been found,recently, this is a great break though, and may prevent others being affected.
 Daisy does have a very large Skull defect, it was not poosable to operate at a young age due to the strength of her heart. Also as she had no skin to cover over any of the operated head there would of been to great a risk of infection. We hope Daisy's skin continues to mature one day giving us, and her the option of treatments.

No comments:

There was an error in this gadget