Thanatophoric Dysplasia

Authors: Najia Hojaili*, Attia Al Zahrani, Ibrahim Kutbi, Laila AL Abasi, Amal Zubani, Liza O Sallam and Moayed Almehmadi

DOI: 10.23880/mjccs-16000295

Volume 5, Issue 4

Abstract

Bone disease is uncommon in neonates, and when is present is most will be congenital either autosomal dominant or resistive, lethal or associated with others disease. Thanatophoric dysplasia is lethal type of bone disease, it is autosomal dominant, it can be diagnosed antenatal, Thanatophoric dysplasia is caused by mutations in the FGFR3 gene and counseling of parents before the baby delivered.

Keywords: Thanatophoric; Dysplasia; Platyspondyly; Organomegaly; Prognosis

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