TY - JOUR ID - 7749 TI - Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly JO - International Journal of Pediatrics JA - IJP LA - en SN - 2345-5047 AU - Yuvaraj, Maria Francis AU - Sankaran, Ponuswamy Kasirajan AU - Raghunath, Gunapriya AU - Kumaresan, Zareena Begum AU - kumaresan M, Kumaresan AD - Instructor, PhD Candidate, Department of Anatomy, Saveetha Medical College, Thandalam, Chennai, India. AD - Associate Professor, Department of Anatomy, Saveetha Medical College, Thandalam, Chennai, India. AD - Professor, Department of Anatomy, Saveetha Medical College, Thandalam, Chennai, India. Y1 - 2017 PY - 2017 VL - 5 IS - 1 SP - 4227 EP - 4231 KW - Cloverleaf skull KW - Dysplasia KW - FGFR3 KW - Thanatophoric DO - 10.22038/ijp.2016.7749 N2 - 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. UR - https://ijp.mums.ac.ir/article_7749.html L1 - https://ijp.mums.ac.ir/article_7749_f746d7fffe848de07194eda87494dcc2.pdf ER -