P33.09: 3D ultrasound, MRI and molecular diagnosis of thanatophoric dysplasia type I
نویسندگان
چکیده
منابع مشابه
Thanatophoric dysplasia.
Two autopsy cases of thanatophoric dysplasia in male newborn infant are described. They have markedly short-limbs and narrow thoraxes. Histologically, generalized disruption of endochondral ossification with normal resting cartilage was seen at the epiphyseal region of femur. Differential diagnosis from other 3 types of lethal chondrodysplasia is described and the histogenesis of thanatophoric ...
متن کاملSafe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA
OBJECTIVE To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS Fetuses with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonogra...
متن کاملA case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis.
OBJECTIVE To present the early 2D and 3D ultrasound findings and the molecular confirmation in a case of thanatophoric dysplasia. METHODS On ultrasound examination, there was frontal bossing, increased nuchal translucency and short limbs at 12 weeks' gestation and a small thorax and short and bowed long bones on 3D at 16 weeks. Amniocentesis and DNA analysis confirmed the mutation of FGFR3 ge...
متن کاملThanatophoric dysplasia: a rare entity.
Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually mad...
متن کاملA Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. We report a male patient who showed clinical findings...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics and Gynecology
سال: 2007
ISSN: 0960-7692
DOI: 10.1002/uog.4815