scholarly journals Lethal Short Limb Dwarfism: Thanatophoric Dysplasia- Type I

2014 ◽  
Author(s):  
Charusheela Sujit Korday
Keyword(s):  
Type I ◽  
Thanatophoric Dysplasia ◽  
Short Limb

scholarly journals Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy

2014 ◽  
Vol 6 (02) ◽  
pp. 121-123 ◽  
Author(s):  
Reshma S Davanageri ◽  
Parul D Shokeen ◽  
Hema B Bannur ◽  
Kamal P Patil
Keyword(s):  
Type I ◽  
Thanatophoric Dysplasia ◽  
Short Neck ◽  
Laboratory Findings ◽  
Fetal Autopsy ◽  
Gestational Period ◽  
Short Limb ◽  
Rare Case Report ◽  
Work Up

ABSTRACTThanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnormalities and characteristic laboratory findings aid in the early diagnosis and further work-up.

Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester

2005 ◽  
Vol 25 (5) ◽  
pp. 426-428 ◽  
Author(s):  
Pierangela De Biasio ◽  
Irina Bruzzone Ichim ◽  
Eloisa Scarso ◽  
Maurizia Baldi ◽  
Anwar Barban ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Type I ◽  
Thanatophoric Dysplasia ◽  
Increased Nuchal Translucency

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

2001 ◽  
Vol 104 (4) ◽  
pp. 277-281 ◽  
Author(s):  
Gianni Camera ◽  
Maurizia Baldi ◽  
Giuseppe Strisciuglio ◽  
Daniela Concolino ◽  
Pierpaolo Mastroiacovo ◽  
...  
Keyword(s):  
Type I ◽  
Thanatophoric Dysplasia

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

1995 ◽  
Vol 4 (11) ◽  
pp. 2175-2177 ◽  
Author(s):  
P. L. Tavormina ◽  
D. L. Rimoin ◽  
D. H. Cohn ◽  
Y.-Z. Zhu ◽  
R. Shiang ◽  
...  
Keyword(s):  
Extracellular Domain ◽  
Cysteine Residue ◽  
Type I ◽  
Thanatophoric Dysplasia

scholarly journals Diagnosis of chromosomal abnormalities in a case with thanatophoric dysplasia (TD) type I: the first report describing an important association between cytogenetic findings and TD.

2012 ◽  
Vol 13 ◽  
pp. 109-113
Author(s):  
Mehmet Turgut ◽  
Osman Demirhan ◽  
Erdal Tunç ◽  
Ibrahim Hakan Bucak ◽  
Perihan Yasemen Canoz ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Type I ◽  
Thanatophoric Dysplasia ◽  
First Report

Clinical and Biochemical Findings of a Patient with Thanatophoric Dysplasia Type I: Additional Finding of Dicarboxylic Aciduria

2002 ◽  
Vol 39 (2) ◽  
pp. 246-248
Author(s):  
Kazuki Okajima ◽  
Kiyofumi Asai ◽  
Toshimitsu Niwa ◽  
Shigeru Ohki ◽  
Hisanori Sobajima ◽  
...  
Keyword(s):  
Type I ◽  
Thanatophoric Dysplasia ◽  
Dicarboxylic Aciduria ◽  
Additional Finding

Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation

2000 ◽  
Vol 20 (10) ◽  
pp. 835-837 ◽  
Author(s):  
Pierangela De Biasio ◽  
Federico Prefumo ◽  
Maria Baffico ◽  
Maurizia Baldi ◽  
Manuela Priolo ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Type I ◽  
Thanatophoric Dysplasia
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