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Case Report
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Eun Jung Noe, Han Wook Yoo, Kwang Nam Kim, So Yeon Lee
Clin Exp Pediatr. 2010;53(12):1022-1025.   Published online December 31, 2010

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the...

Original Article
A Case of Thanatophoric Dysplasia.
Eun Sil Kim, Hyun Joo Choi, Mi Ran Park, Jae Yun Kim, In Sang Jeon, Kwang Jeon Kim, Bum Woo Yum
Clin Exp Pediatr. 1990;33(11):1593-1597.   Published online November 30, 1990
Thanatophoric dysplasia is a short limb dwarf condition in which respiratory distress is responsible for death in the first hours or days after birth. We experienced a case of thanatophoric dysplasia who presented striking disproportion of trunk and extremities. The head was relatively large, the trunk was narrow and normal length, and the extremities were markedly shortened. The radiologic feature of this dysplasia was characteristic....
A case of thanatophoric dysplasia.
H J Kwon, E K Won, J S Min, C H Choi
Clin Exp Pediatr. 1989;32(11):1598-1602.   Published online November 30, 1989
Thanatophric dysplasia have a prominent forehead, depressed nasal bridge, and bulging eyes. The limbs are extremly short and held extended from the body. The chest is small and pear-shaped. Affected infants are hypotonic and lack primitive reflexes. Most affected infants are still born or die within hours of birth. Two cases of thanatophoric dysplasia are presented with gidelines for diagno- sis. A review of...
A Case of Thanatophoric dysplasia and Kleeblattschadel.
G H Jeong, N J Hwang, H M Lee, O S Jeong, S S Seo, H G Yun
Clin Exp Pediatr. 1989;32(2):280-284.   Published online February 28, 1989
We experienced a case of thanatophoric dysplasia and Kleeblattschädel. She was noticed micromelia, narrow thorax, saddle nose and large skull on physical examination. We confirmed this case by X-ray and autopsy finding. A brief review of literature is presented.
Case Report
A Case of Thanatophoric Dysplasia.
Hae Sook Cha, Hyun Hwa Kim, Young Hee You, Hyun Sook Lee, Jeong Rae Kim
Clin Exp Pediatr. 1984;27(5):521-526.   Published online May 31, 1984
A case of thanatophoric dysplasia was presented with a brief review of literature. The baby showed characteristic clinical feature with relatively large head, prominent forehead, flattening of the bridge of the nose and extremly short arm and legs. X-ray showed marked shortening of rib, narrow chest, flattened vertebral body within lumbar region, rectangular shape of pelvic bone, prominent softtissue of abdomen...
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