Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound

Abstract

Skeletal dysplasias form an assorted cluster of bone dysplasias that result in atypical and aberrant skeletal size and shape. The case discussed here was diagnosed as thanatophoric dysplasia during the second-trimester ultrasound examination and the medical termination of pregnancy was subsequently done. The fetus had shortening of the limbs (micromelia) with long bones (shaped like a telephone receiver), a small conical thorax, a protuberant abdomen, increased skin thickness with a cloverleaf skull, and macrocephaly. The relevant details and review of literature pertinent to the case are hereby discussed.

Keywords

• cloverleaf skull
• micromelia
• prenatal
• thanatophoric dysplasia
• ultrasound