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thanatophoric dysplasia/edema
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A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester.
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During a routine prenatal exam, a 36-year-old female in her third pregnancy was diagnosed with fetal hydrops at 11 weeks of gestation. The pregnancy was monitored with periodic ultrasounds; however, spontaneous resolution was not observed. Amniotic fluid examination at 16 weeks of gestation showed a
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II.
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OBJECTIVE
To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2).
METHODS
A 35-year-old, primigravid woman was referred to our institution for genetic counseling and amniocentesis at 19 weeks of gestation because of advanced maternal age and sonographic
Specific skeletal dysplasias in utero: sonographic diagnosis.
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A retrospective study was performed of 13 short-limbed fetuses with lethal skeletal dysplasias that were evaluated with ultrasound (US) from 1981 to 1984. The specific diagnoses were thanatophoric dwarfism, achondrogenesis, osteogenesis imperfecta, and campomelic dwarfism. Death occurred in utero or
Intrauterine diagnosis of short-limbed dwarfism.
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Ten short-limbed fetuses caused by skeletal dysplasia were diagnosed prenatally from September 1984 through July 1988. The final diagnosis was thanatophoric dwarfism in 7 cases and osteogenesis imperfecta congenita in 3 cases. The diagnosis was based on sonographic findings in all cases and
Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.
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Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported. A lethal form of Larsen syndrome (Larsen-like syndrome) has been described as a
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