Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly

Yuvaraj, Maria Francis; Sankaran, Ponuswamy Kasirajan; Raghunath, Gunapriya; Kumaresan, Zareena Begum; Kumaresan M, Kumaresan

doi:10.22038/ijp.2016.7749

Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly

Authors

Maria Francis Yuvaraj ¹

Ponuswamy Kasirajan Sankaran ²

Gunapriya Raghunath ³

Zareena Begum Kumaresan ¹

Kumaresan kumaresan M ¹

¹ Instructor, PhD Candidate, Department of Anatomy, Saveetha Medical College, Thandalam, Chennai, India.

² Associate Professor, Department of Anatomy, Saveetha Medical College, Thandalam, Chennai, India.

³ Professor, Department of Anatomy, Saveetha Medical College, Thandalam, Chennai, India.

10.22038/ijp.2016.7749

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