pregnancy in turner syndrome variants report of 9 cases and review literature
نویسندگان
چکیده
turner syndrome is one of the most common cytogeneti disorders in human with an incidence of one case in about 2500 female live born children. most patients have sexual infantilism and pregnancy is rare. bahner reported the first case of a pregnant turner patients and then the pregnancy of such patients has not been considered impossible. 9 patients out of 243 turner patients referred to kariminejad-najmabadi pthology and genetic center (teharn-iran) durinf 1979 to 1997 have experienced spontaneous pregnancy. these 24 pregnancies lead to 14 cases of spontaneous abortion (64%) 3 cases of intra-uterine fetal death (14%) and 5 cases of live birth (20%) consisted of one case of congenital heart disease and one case of down syndrome. we have not any information about two other cases. in this article we discuss the chance and outcome of pregnancy in turner syndrome
منابع مشابه
wolfram syndrome: report of five cases and review of literature
purpose: to report five cases of wolfram syndrome, an autosomal recessive neurodegenerative disease with ِdiabetes insipidus, diabetes mellitus, optic atrophy, and deafness (didmoad syndrome). patients and findings: all of the five patients had diabetes mellitus and optic atrophy. four patients had hearing loss. in spite of persistence of polyuria and polydipsia, diabetes insipidus had been prev...
متن کاملexotropic mobius syndrome: report of three cases and literature review
purpose: to describe three cases of exotropic mobius syndrome and to report outcomes of the surgical intervention. case reports: three patients including two boys and one girl were referred to our strabismus clinic. all had masked faces and non-progressive congenital bilateral facial palsy and dry eye. other abnormalities included large angle exotropia and bilateral horizontal gaze palsy. surgi...
متن کاملDown-Turner syndrome: case report and review.
We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can ...
متن کاملMcCune-Albright Syndrome: A Case Report and Literature Review
McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
متن کاملFragile X-syndrome: literature review and report of two cases.
Fragile X-syndrome is caused by a mutation in chromosome X. It is one of the most frequent causes of learning disability. The most frequent manifestations of fragile X-syndrome are learning disability, different orofacial morphological alterations and an increase in testicle size. The disease is associated with cardiac malformations, joint hyperextension and behavioural alterations. We present ...
متن کاملGitelman syndrome: report of three cases and literature review.
Gitelman syndrome (GS) is a rare autosomal recessive, inherited renal tubular disorder. Herein, we report three cases of GS, one sporadic case and two siblings. They have typical laboratory findings, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. All of them were treated with oral potassium and magnesium supplements. They received regular pediatric clinic follow-...
متن کاملمنابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
genetics in the 3rd millenniumجلد ۳، شماره ۴، صفحات ۶۴۰-۶۴۵
کلمات کلیدی
میزبانی شده توسط پلتفرم ابری doprax.com
copyright © 2015-2023