| Monosomy X |
| less than 1% |
|
|
|
|
Skeletal Dysplasias |
| ultrasonography, X-ray, chromosome analysis, molecular diagnosis autopsy & histopathology |
|
| Thanatophoric dysplasia |
| dominant/recessive |
| Osteogenesis imperfecta type II |
| recessive in most |
| Achondrogenesis |
| recessive |
| Short rib polydactyly syndrome |
| recessive |
| Robert syndrome |
| recessive |
|
|
|
|
Rare lethal abnormality |
| ultrasonography, X-ray, chromosomal analysis and autopsy |
|
| Sirenomelia |
| sporadic |
| OEIS complex |
| sporadic |
| Urorectal malformation |
| sporadic/recessive |
| Lethal congenital arthrogryposis |
| heterogeneous |
| Hydrocephaly |
| heterogeneous |
| Fetus in fetu |
| sporadic |
| Fetus paparysious |
| sporadic |