کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5667788 | 1407868 | 2017 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
ایمونولوژی، آلرژی و روماتولوژی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome](/preview/png/5667788.png)
چکیده انگلیسی
Osteopathia striata with cranial sclerosis is a rare X-linked disorder. It is often lethal in male patients, and is considered X-linked dominant since affected females exhibit clinical signs, although milder than males. We describe here an adult male patient, with clinical and radiological signs similar to those described in female patients. Diagnosis was confirmed by the identification of an AMER1 mutation. The presence of long bones striation and the clinical phenotype of the patient also led to the diagnosis of non-mosaic Klinefelter syndrome, probably explaining the non-lethal and even rather minor phenotype compared to the rare affected males already described.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Joint Bone Spine - Volume 84, Issue 1, January 2017, Pages 87-90
Journal: Joint Bone Spine - Volume 84, Issue 1, January 2017, Pages 87-90
نویسندگان
Melanie Fradin, Corinne Collet, Isabelle Ract, Sylvie Odent, Pascal Guggenbuhl,