Thanatophoric dwarfism
From WikiLectures
- Thanatophoric dwarfism (thanatophoric dysplasia) is the most common lethal form of dwarfism, it is caused by various mutations in the FGFR3 gene .
- disorder of enchondral ossification, often associated with malformations of the cardiovascular system and central nervous system
- children have a large head, sometimes with craniofacial disproportion (the so-called cloverleaf skull syndrome - it has the shape of a trefoil), vertebral platyspondyl
- short limbs and ribs with marked narrowing and shortening of the chest (resulting in ARDS )
- femurs tend to be shaped like a telephone handset
- differential diagnosis: achondroplasia
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Refrences[edit | edit source]
- DUNGL, P., et al. Ortopedie. 1. edition. Praha : Grada Publishing, 2005. ISBN 80-247-0550-8.
