radiogram of a baby born with thanatophoric dwarfismThanatophoric dwarfism (thanatophoric dysplasia) is the most common lethal form of dwarfism, it is caused by various mutations in the FGFR3 gene .
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 )
