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.

SONOLOGICAL  FINDINGS:

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

RADIOGRAPHIC FINDINGS:

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

PHYSICAL  EXAMINATION:

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

 

CONCLUSION:

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

Pictures

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