Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome
نویسندگان
چکیده
منابع مشابه
Thrombocytopenia absent radius (TAR) syndrome.
AIM The aim of the work was a presentation of one case with Thrombocytopenia absent radius (TAR) syndrome. METHODS Diagnosis of TAR syndrome has been established on the basis of pedigree, laboratory findings (hemogram, platelet count, peripheral smear), bone marrow biopsy, radiological examination and karyotype. RESULTS A patient was a two months old female child, hospitalized due petechial...
متن کاملPrenatal diagnosis of thrombocytopenia-absent radius syndrome.
Thrombocytopenia-absent radius (TAR) syndrome is an autosomal-recessive disorder characterized by a thrombocytopenia and a bilateral radial aplasia with normal thumbs. Only TAR syndrome, out of diseases which may present with radial aplasia, typically has normal thumbs. The prenatal diagnosis is rarely made. We report two observations of TAR syndrome diagnosed in utero in the sibling. The malpo...
متن کاملPrenatal diagnosis of thrombocytopenia-absent radius syndrome
The prenatal diagnosis of thrombocytopeniaabsent radius (TAR) syndrome by ultrasound is established. The sonographic findings showed bilateral absence of the radii and club hands with normal thumbs and metacarpals. Thrombocytopenia was identified from the postabortal cord blood. Three-dimensional computerized tomography images confirmed the sonographic diagnosis. This report, to our knowledge, ...
متن کاملThrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome
Radiol Bras. 2016 Mar/Abr;49(2):126–132 128 http://dx.doi.org/10.1590/0100-3984.2015.0063 found in males, at a ratio of 2–3:1, and can be diagnosed at any age. The pancake kidney malformation results from complete medial fusion of the metanephric blastema at an early stage of embryonic development and is characterized by a single, flat, nonreniform mass, in a medial position within the pelvic c...
متن کاملThrombocytopenia and absent radius (TAR) syndrome in pregnancy.
To cite: Pereira E, Regalo A, Caseiro L, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-212088 DESCRIPTION A healthy 36-year-old Caucasian woman, P2002, a non-smoker who did not consume alcohol, with no history of exposure to teratogenic agents, presented, at a gestational age of 15 weeks, for prenatal care at our hospital. Ultrasound findings showed...
متن کاملذخیره 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: Ultrasound in Obstetrics and Gynecology
سال: 2005
ISSN: 0960-7692
DOI: 10.1002/uog.1998