Author/Authors :
Francis Yuvaraj, Maria Department of Anatomy - Saveetha Medical College, Thandalam, Chennai, India , Kasirajan Sankaran, Ponuswamy Department of Anatomy - Saveetha Medical College, Thandalam, Chennai, India , Raghunath, Gunapriya Department of Anatomy - Saveetha Medical College, Thandalam, Chennai, India , Begum, Zareena Department of Anatomy - Saveetha Medical College, Thandalam, Chennai, India , Kumaresan M, Kumaresan Department of Anatomy - Saveetha Medical College, Thandalam, Chennai, India
Abstract :
The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric
dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is
mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric
dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The
knowledge about this condition is useful in the fields of Anatomy, Paediatrics, Obstetrics and
Gynaecology, Ultrasonagraphy and Genetics, for future research purpose.
Keywords :
Cloverleaf skull , Dysplasia , FGFR3 , Thanatophoric
