Cystic fibrosis co-existing with trisomy 21

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Cystic Hygroma Co-existing with Congenital Subglottic Stenosis

Respiratory distress is one of the commonest cause of admission into a Neonatal Intensive Care Unit, be it surgical or medical in nature. Adequate and prompt resuscitation as well as intubation can be life saving. Emergency or early tracheostomy may be necessary if airway intervention is needed. The authors present the case of a term neonate who was born with a large cervical cystic hygroma cau...

متن کامل

Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome.

Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome* Summary. Trisomy 21 mosaicism was identified by fluorescent quinacrine banding in a phenotypically normal mother, who gave birth to two children with trisomy 21 Down's syndrome. Trisomy 21 Down's syndrome associated with maternal mosaicism was first described by Smith et al in 1962. Since then there have been at ...

متن کامل

Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran

Background: Cystic fibrosis (CF) is the most common lethal genetic disorder of Cystic Fibrosis Trans-membrane Conductance (CFTR) Regulator gene mutations. We aimed to investigate common mutations in CF patients and to assess its possible relationship with clinical presentations. Materials and Methods: This cross sectional study was conducted on 36 CF patients who were referred to a tertiary ped...

متن کامل

Cystic Fibrosis: Therapeutic Options For Co-management

Cystic fibrosis (CF) is a cruel and deadly disease affecting the respiratory system, digestive system, endocrine system, and reproductive system. CF is a disease of greatly varied symptomatology due to the many possible mutations contributing to genotype and phenotype. This creates a disease complex with a wide range of disorders that can ultimately include chronic obstructive pulmonary disease...

متن کامل

Fetal nuchal cystic hygroma associated with aortic coarctation and trisomy 21: a case report

We report a case of fetal nuchal cystic hygroma associated with aortic coarctation and trisomy 21. A stillborn baby, delivered at 15 weeks and 5 days of gestation, had a huge nuchal cystic hygroma. Autopsy revealed aortic coarctation of the periductal type with patent ductus arteriosus, endocardial cushion defect and left ventricular hypoplasia. Trisomy 21 was evident by karyotyping. Macroscopi...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Journal of Cystic Fibrosis

سال: 2010

ISSN: 1569-1993

DOI: 10.1016/j.jcf.2010.05.003