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2014 Month : April Volume : 3 Issue : 14 Page : 3665-3669THANATOPHORIC DYSPLASIA IN THE NEWBORN
Girish Gopal1, Gangadhar B. Belavadi2
CORRESPONDING AUTHOR:
Dr. Girish Gopal,
No. 319, First Floor,
KHB Colony, 17th D Main,
5th Cross, 5th Block,
Koramangala, Bangalore – 560095.
E-mail: girishgpl@gmail.com
ABSTRACT: Thanatophoric dysplasia (TD) is the most common, congenital, sporadic, usually lethal osteochondrodysplasia. TD has two subtypes: TD1 and TD2. Marked shortening of limbs (micromelia), bell shaped thorax and platyspondyly are the hallmarks of both subtypes. Clover leaf skull is a characteristic feature of TD type 2. De novo mutations in the fibroblast growth factor receptor 3 gene (FBFR3) results in this disorder. In most cases TD can be diagnosed by antenatal sonography. We report a neonate with Thanatophoric dysplasia.
KEYWORDS: Clover leaf skull, congenital, micromelia, platyspondyly, Thanatophoric dysplasia.