A case of thanatophoric dysplasia type I with an R248C mutation in the gene

• मुख्य लेखकों: Eun Jung Noe (लेखक), Han Wook Yoo (लेखक), Kwang Nam Kim (लेखक), So Yeon Lee (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Korean Pediatric Society, 2010-12-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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 malfo...