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