What are the main symptoms of achondrogenesis?
Achondrogenesis is usually a lethal condition. They infants are often stillborn or die shortly after birth from respiratory failure.
Achondrogenesis type 1A infants have extremely short limbs, a narrow chest, short ribs that fracture easily and a lack of normal bone development in the skull, spine and pelvis.
Achondrogenesis type 1B infants have extremely short limbs, narrow chest, and a prominent rounded abdomen. The fingers and the toes are short and there may be club feet. The often have an umbilical hernia and will sometimes have a hernia in the groin.
Achondrogeneis type 2 infants have short arms and legs, a narrow chest with short ribs and underdeveloped lungs. There is also a lack of normal bone development in the spine and pelvis. There are facial features that include a prominent forehead, a small chin and a cleft palate.
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How is a pregnancy affected by achondrogenesis?
The patients with achondrogenesis often present in breech presentation and the pregnancy is complicated with polyhydramnios as well as the skeletal features in utero.