سندرم DRASH و گزارش اولین مورد آن در ایران
Authors
Abstract:
ABSTRACT: DRASH Syndrome is a rare congenital disorder,and the triad of drash syndrome are progressive renal insufficiency ,male pseudohermaphroditism & Wilms tumor .All of the reported cases were sporadic and autosomal dominant inheritance was suspected in some references. We diagnosed a 32- month child with this syndrome in IRAN in 1993. He was presented with wilms tumor and also had male pseudohermaphroditism and renal insufficiency. The patient died due to fluid & electrolyte disturbance .His parents had consanguinity marriage and thus there is a possibility of autosomal recessive inheritance. In this patient , the age for onset of nephropathy was higher than that in similar cases.
similar resources
معرفی اولین مورد سندرم “Jarcho-Levinاز ایران”
Jarcho-Levin syndrome is a rare central skeletal system defect with the involvement of ribs and vertebrae and association of short trunk stature and some other organ anomalies. One of the common problems is different rate of respiratory abnormalities. Chest X-Ray is the primary base for the diagnosis, but spiral 3D CT scan give us more accurate evaluation of the ribs situation. There are also c...
full textسندرم «نونان» و گزارش یک مورد آن
سندرم نونان یک اختلال با فنوتیپ مشابه سندرم ترنر (منوزومی کروموزوم X) و ژنوتیپ و کاریوتیپ طبیعی است. این سندرم، بیماری بسیار نادر می باشد و در سنین مختلف علائم متفاوتی دارد و هردو جنس را به یک نسبت مبتلا می کند. در دهه اول عمر، علائم بیماری، به صورت: ظاهر غیر طبیعی و کوتاهی قد بروز می نماید. دختر هشت ساله ای که به دلیل کوتاهی قد مراجعات مکرر نموده بود، باتوجه به ظاهر خاص (هیپرتلوریسم، میکروگناس...
full textMy Resources
Journal title
volume 5 issue 16
pages 47- 51
publication date 1997-03
By following a journal you will be notified via email when a new issue of this journal is published.
No Keywords
Hosted on Doprax cloud platform doprax.com
copyright © 2015-2023