Thanatophoric Dysplasia: A Case Report

Abstract

Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies) and macrocephaly. TD is divided into two clinically defined subtypes: type I and II with some clinical overlap between the two subtypes. They can be differentiated by the skull shape and femur morphology. Ultrasound examination in the second trimester is often straight forward in diagnosing the congenital anomaly. We report a case of pre term fresh stillborn baby with dysmorphic facies, macrocephaly, micromelia with short stubby fingers and deep skin creases, narrow thorax and protuberant abdomen which delivered at our hospital. The ultrasound examination showed shortening of long bones with femur shaped like telephone receiver. Dysmorphic facial features and skeletal abnormalities in the baby lead us to make the diagnosis of TD type I. Because of the rarity of this condition we report this case of thanatophoric dysplasia with a short review of literature.

Keywords: Congenital; Micromelia; Platyspondyly; Skeletal dysplasia.

[Table/Fig-1]:

USG showing Dilated 3^rd Ventricle

[Table/Fig-2]:

USG depicting Cisterna Magnae

[Table/Fig-3]:

Fetal abdomen with ascites

[Table/Fig-4]:

Femur and Humerus (Telephone receiver like)

[Table/Fig-5]:

Thanatophoric Dysplasia