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.
Daisys Diagnosis
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.
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
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.
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