Lethal skeletal dysplasia - Achondrogenesis @ 10 weeks скачать в хорошем качестве

Lethal skeletal dysplasia - Achondrogenesis @ 10 weeks

Achondrogenesis is a group of rare skeletal dysplasias characterized by extreme shortening of the arms and legs in relation to the trunk, abnormal development of ribs, vertebra and other skeletal abnormalities. It is lethal (life-threatening) and most infants are stillborn or die shortly after birth due to respiratory failure. The head may look disproportionately large, because the body is small. In addition, affected individuals have extremely short limbs and ribs, short neck, flat vertebrae and many other bones of the skeleton are not properly developed. All types of achondrogenesis are genetic conditions; type IA and type IB, are autosomal recessive disorders, whereas achondrogenesis type II is an autosomal dominant disorder. Achondrogenesis type IA is caused by mutations in the TRIP11 gene; type IB is caused by mutations in the SLC26A2 gene. Achondrogenesis type II is caused by so called autosomal dominant change in the COL2A1 gene. This is being explained by Dr Ashutosh Gupta www.fetalandgeneticclinic.com