Thanatophoric dwarfism


 * [[File:Thanatophoric-dwarf-102.jpg|alt=Source=RadsWiki|thumb|radiogram of a baby born with thanatophoric dwarfism]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

Related articles

 * Achondroplasia
 * Diastrophic dwarfism