thanatophoric dwarfism radiology club

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Vv photo

VANIVILAS HOSPITAL

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DR ANURADHA

Presents

AUTHOR : DR B. R . NAGARAJAsst Prof & I/C Head,

Vanivilas Women & Children Hospital Bangalore Medical College

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THANATOPHORIC DYSPLASIA

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

A lethal congenital skeletal dysplasia - manifests itself at birth with a characteristic external appearance, diagnostic radiological and sonological abnormalities .

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usually associated with polyhydramnios.

Sometimes we can find combination of both structural and functional abnormalities .

We report three cases of thanatophoric dwarfs, one of them showing combination of skeletal dysplasia with hydrops.

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EPIDEMIOLOGY:

Incidence Incidence : 1/42000: 1/42000

Age of Onset Age of Onset : New Born : New Born

Risk Factors Risk Factors : Familial Autosomal-Dominant : Familial Autosomal-Dominant

Gene Gene : Fibroblast growth factor : Fibroblast growth factor receptor(3Gene) – FGFR3gene receptor(3Gene) – FGFR3gene

GENETICS:

FGFR3gene – this is a transmembrane receptor comprised of 3 domains

The mutation always occurs in the egg or sperm that created the child. The disease is never passed on to the next generation as thanatophores do not live to have children.

Parents who have one child with this disorder do not have an increased risk of having another child with the condition, but often request close monitoring of future pregnancies.

CASE 1

An 18 year old female , referred from OBG unit A , with op no 9350 presented with 27weeks of amenorrhea.

Routine antenatal scan was done

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SONOLOGICAL FINDINGS:

A single live intrauterine fetus with : BPD -7.5cm[ corresponds to 30weeks ], HC -25.7cm [26 weeks 6days ] AC -29.9 cm [34 weeks 1day] FL -2.8 cm [18weeks 1day] SKULL- brachycephaply THORAX- narrow ABDOMEN-protuberant with ascites PLACENTA - placentomegaly ,6.5cm LIQUOR –normal SUBCUTANEOUS EDEMA :noted around skull and

abdomen

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CASE 2

An eighteen year old female with 29weeks amenorrhea presented for routine antenatal scan.

USG REVEALED:- BPD - 8.0 CM [corresponds to

32weeks]

- HC - 27 CM [corresponds to 29weeks]

- AC - 25 CM [corresponds to 29weeks]

- FL - 3.1 CM [corresponds to 19weeks]

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RADIOLOGICAL FEATURES

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 OF THE FETUS

Large head ,bulged forehead, depressed nasal bridge

Narrow thorax

Protuberant abdomen

Coiled spring appearance of the shortened limbs which are in abduction

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CASE 3

A 20 year old female presented for routine antenatal scan.

A single live I.U fetus of 31 weeks gestation noted with polyhydramnios .

BPD - 8.1 CM [corresponds to 33 weeks ]

HC - 28.8 CM [corresponds to 30 weeks ]

AC - 26 CM [corresponds to 30 weeks ]

FL - 2.8 CM [corresponds to 18 weeks ]

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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.

ACKNOWLEDGEMENTS

PROFESSOR AND HEAD , DEPT OF RADIO DIAGNOSIS ,

BANGALORE MEDICAL COLLEGE

PROFESSOR AND HEAD ,

DEPT OF OBG,

VANI VILAS HOSPITAL

ALL POSTGRADUATES OF RD, OBG, BMC

ALL TECHNICAL STAFF OF RD, BMC.

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