O relato tem como objetivo apresentar dois casos de displasia tanatofórica (DT), um caso do tipo I e outro do tipo II, com especial atenção ao sistema nervoso central. No caso compatível com DT tipo I foram observados macrocefalia, tórax estreito, hipoplasia pulmonar acentuada, abdome protuberante. Exames radiológicos revelaram platispondilia e ossos curtos encurvados com achatamento e fusão metafisária. No caso compatível com DT tipo II foram observados megaencefalia, fenda palatina, membros curtos e crânio em "folha de trevo". Os achados radiológicos ósseos foram platispondilia, alargamento dos espaços intervertebrais, ossos do esqueleto apendicular mais retilíneos que o primeiro caso e macrocefalia. Ao exame microscópico de ambos os caso...
Introduction: thanatophoric dysplasias are characterized by narrow thorax with platyspondyly (flatt...
Thanatophoric dwarfism (TD), literally meaning death seeking dwarf, is the most common form of letha...
Thanatophoric dysplasia (TD) is a congenital, sporadic, and the most lethal skeletal dysplasia cause...
ResumenLa displasia tanatofórica (DT) es la osteocondrodisplasia más letal que existe en el periodo ...
Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first d...
Thanatophoric dysplasia (TD) was reported earlier in the previous publication. It is one of the mos...
Background: Thanatophoric dysplasia (TD) is the most lethal and most severe type of dysplasia. It ha...
Thanatophoric dysplasia type 1 is a form of lethal skeletal dysplasia, characterized by axial-append...
The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dyspla...
Thanatophoric Dysplasia (TD) is a severe short-limb dwarfism syndrome that is usually lethal in the ...
During a routine prenatal exam, a 36-year-old female in her third pregnancy was diagnosed with fetal...
Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias an...
Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of...
Documentation through X-ray morphometry and histology of the steady phenotype expressed by FGFR3 gen...
Abstract (English) Objective: To report a rare case of thanatophoric skeletal dysplasia type 2 that ...
Introduction: thanatophoric dysplasias are characterized by narrow thorax with platyspondyly (flatt...
Thanatophoric dwarfism (TD), literally meaning death seeking dwarf, is the most common form of letha...
Thanatophoric dysplasia (TD) is a congenital, sporadic, and the most lethal skeletal dysplasia cause...
ResumenLa displasia tanatofórica (DT) es la osteocondrodisplasia más letal que existe en el periodo ...
Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first d...
Thanatophoric dysplasia (TD) was reported earlier in the previous publication. It is one of the mos...
Background: Thanatophoric dysplasia (TD) is the most lethal and most severe type of dysplasia. It ha...
Thanatophoric dysplasia type 1 is a form of lethal skeletal dysplasia, characterized by axial-append...
The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dyspla...
Thanatophoric Dysplasia (TD) is a severe short-limb dwarfism syndrome that is usually lethal in the ...
During a routine prenatal exam, a 36-year-old female in her third pregnancy was diagnosed with fetal...
Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias an...
Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of...
Documentation through X-ray morphometry and histology of the steady phenotype expressed by FGFR3 gen...
Abstract (English) Objective: To report a rare case of thanatophoric skeletal dysplasia type 2 that ...
Introduction: thanatophoric dysplasias are characterized by narrow thorax with platyspondyly (flatt...
Thanatophoric dwarfism (TD), literally meaning death seeking dwarf, is the most common form of letha...
Thanatophoric dysplasia (TD) is a congenital, sporadic, and the most lethal skeletal dysplasia cause...