Thanatophoric dwarfism

Diagnosis almost certain

Citation, DOI, disclosures and case data

Citation:

Salam H, Thanatophoric dwarfism. Case study, Radiopaedia.org (Accessed on 29 May 2023) https://doi.org/10.53347/rID-9741

DOI:

https://doi.org/10.53347/rID-9741

Permalink:

https://radiopaedia.org/cases/9741

rID:

9741

Disclosures:

At the time the case was submitted for publication Hani Makky Al Salam had no recorded disclosures.

View Hani Makky Al Salam's current disclosures

Case published:

20 May 2010

Revisions:

8 times, by 3 contributors - see full revision history and disclosures

Systems:

Paediatrics

Tags:

dwarfism

Quiz mode:

Included

From the case: Thanatophoric dwarfism

x-ray

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Frontal

Telephone receiver deformity of the femoral bones.

Case Discussion

Skeletal features highly suggestive of thanatophoric dysplasia.

7 public playlists include this case

Skeletal dysplasias by RAB Two
PEDIATRIC MSK by AHMED BELETA
MSK - Non-Trauma - Dysplasia - Skeletal - Non-Dwarfing by Aman
Paediatrics - MSK - Congenital Bone by Aman
obstetrics imaging by Dr Angel Mthalane
paeds viva by Yu Xuan Kitzing ◉
Ped by Nahla fawzy mohamed noiem

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Thanatophoric dwarfism

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Case Discussion

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