Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
bone development
|
| gptkbp:cause |
perinatal death
|
| gptkbp:characterizedBy |
macrocephaly
frontal bossing narrow thorax underdeveloped lungs severe shortening of limbs short ribs |
| gptkbp:diagnosedBy |
molecular genetic testing
prenatal ultrasound |
| gptkbp:firstDescribed |
gptkb:Pierre_Maroteaux
1967 |
| gptkbp:hasType |
Type I
Type II |
| https://www.w3.org/2000/01/rdf-schema#label |
Thanatophoric dysplasia
|
| gptkbp:ICD-10_code |
Q77.1
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:mutationAssociatedWith |
gptkb:FGFR3_gene
|
| gptkbp:namedAfter |
Greek word for 'death bearing'
|
| gptkbp:OMIM |
187601
|
| gptkbp:prevalence |
about 1 in 20,000 to 50,000 births
|
| gptkbp:prognosis |
poor
|
| gptkbp:treatment |
supportive care
|
| gptkbp:Type_I_characterizedBy |
curved femurs (telephone receiver-shaped)
|
| gptkbp:Type_II_characterizedBy |
cloverleaf skull
straight femurs |
| gptkbp:bfsParent |
gptkb:chromosome_4p16.3
|
| gptkbp:bfsLayer |
7
|