2 Cases of Thanatophoric Dwarfism

2 Cases of Thanatophoric Dwarfism

I present here 2 cases of the lethal form of dwarfism - Thanatophoric dwarfism detected on antetal ultrasound and followed up completely with photographs. The case was worked up at VaniVilas hospital when i was a PG with Dr. B.R. Nagaraj (Professor) and Dr. Anuradha (PG).

It Was described in 1967 by Maroteaux, Lamy and Robert, who differentiated it from achondroplasia and coined its name which means-DEATH BEARING.


SKULL- brachycephaply
THORAX- narrow 
ABDOMEN-protuberant  with  ascites 
PLACENTA  - placentomegaly  ,6.5cm
LIQUOR –normal
SUBCUTANEOUS   EDEMA :noted  around  skull  and  abdomen


Skull-clover  leaf  appearance
Short horizontal ribs
H  shaped  vertebra
C  shaped  femora
Short  long  bones
Iliac bones shortened in height horizontal acetabular roofs.


Large head ,bulged forehead, depressed nasal bridge
Narrow  thorax
Protuberant   abdomen
Coiled  spring  appearance  of  the shortened limbs which are in abduction



Thanatophoric  Dwarfism being a lethal congenital skeletal dysplasia  has  characteristic sonological features ,hence  can be differentiated from other skeletal dysplasias.
This can be diagnosed with 100% accuracy in experienced hands.

Its definitive detection  antenatally will prevent maternal morbidity and mortality



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