Introduction
Achondrogenesis type I is a lethal type of skeletal dysplasia with incidence 0.23 per 10, 000 live births. It is an autosomal recessive disorder clinically manifested by severe limb shortening - marked micromelic dwarfism; fetal hydrops; small, barrel-shaped chest; short neck and trunk, distended abdomen; polyhydramnion. There are usually some additional findings present such as heart, genitourinary tract or CNS anomaly. Differential diagnosis with Achondrogenesis type II is based on lack of mineralization of vertebral bodies in the type II, but both of the anomalies have large spectrum of phenotypic variability.
Case report
This ia a case of the skeletal dysplasia called Achondrogenesis type I. The diagnosis of lethal skeletal dysplasia was done at 31 weeks of the otherwise uncomplicated pregnancy of 34-year-old G2P1. She had no previous ultrasound scan done prior our examination. She opted for the pregnancy termination due to the adverse prognosis for the fetus.
Images 1, 2: Images show an apparent edema of the head at 31 weeks. This is probably not edema but a normal amount of sot-tissue over a too small skeletal frame.