Abstract
Ehlers-Danlos type IX syndrome, also called occipital horn syndrome (OHS), is a milder and rare form of Menkes disease where the patient reaches adulthood. As an X-linked disease, it typically occurs in male subjects, while female subjects are usually healthy carriers. OHS is mainly characterized by connective tissue disorders and slightly subnormal intelligence or signs of autonomic dysfunction are the only apparent neurological abnormalities, in connection with molecular defects in copper metabolism. Our purpose is to report on radiological skeletal findings that may be incidental or investigated when OHS is suspected and to underline the possible involvement and expression in the female. Moreover, the impact of skeletal findings is also highlighted in the prevention of serious complications of the disease.
| Original language | English |
|---|---|
| Pages (from-to) | 1491-1494 |
| Number of pages | 4 |
| Journal | Skeletal Radiology |
| Volume | 40 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Nov 2011 |
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ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
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Occipital horn syndrome in a woman : Skeletal radiological findings. / Bazzocchi, Alberto; Femia, Rayka; Feraco, Paola; Battista, Giuseppe; Canini, Romeo; Guglielmi, Giuseppe.
In: Skeletal Radiology, Vol. 40, No. 11, 11.2011, p. 1491-1494.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Occipital horn syndrome in a woman
T2 - Skeletal radiological findings
AU - Bazzocchi, Alberto
AU - Femia, Rayka
AU - Feraco, Paola
AU - Battista, Giuseppe
AU - Canini, Romeo
AU - Guglielmi, Giuseppe
PY - 2011/11
Y1 - 2011/11
N2 - Ehlers-Danlos type IX syndrome, also called occipital horn syndrome (OHS), is a milder and rare form of Menkes disease where the patient reaches adulthood. As an X-linked disease, it typically occurs in male subjects, while female subjects are usually healthy carriers. OHS is mainly characterized by connective tissue disorders and slightly subnormal intelligence or signs of autonomic dysfunction are the only apparent neurological abnormalities, in connection with molecular defects in copper metabolism. Our purpose is to report on radiological skeletal findings that may be incidental or investigated when OHS is suspected and to underline the possible involvement and expression in the female. Moreover, the impact of skeletal findings is also highlighted in the prevention of serious complications of the disease.
AB - Ehlers-Danlos type IX syndrome, also called occipital horn syndrome (OHS), is a milder and rare form of Menkes disease where the patient reaches adulthood. As an X-linked disease, it typically occurs in male subjects, while female subjects are usually healthy carriers. OHS is mainly characterized by connective tissue disorders and slightly subnormal intelligence or signs of autonomic dysfunction are the only apparent neurological abnormalities, in connection with molecular defects in copper metabolism. Our purpose is to report on radiological skeletal findings that may be incidental or investigated when OHS is suspected and to underline the possible involvement and expression in the female. Moreover, the impact of skeletal findings is also highlighted in the prevention of serious complications of the disease.
UR - http://www.scopus.com/inward/record.url?scp=80755132289&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=80755132289&partnerID=8YFLogxK
U2 - 10.1007/s00256-011-1175-6
DO - 10.1007/s00256-011-1175-6
M3 - Article
C2 - 21553336
AN - SCOPUS:80755132289
VL - 40
SP - 1491
EP - 1494
JO - Skeletal Radiology
JF - Skeletal Radiology
SN - 0364-2348
IS - 11
ER -