Fetal skeletal dysplasias

Question 1

skeletal dysplasias

Answer 1

A group of more than 350 disorders of the skeleton, can be broken down into two relatively distinct groups. The more we learn the more blurred this distinction becomes.

osteochondroplasias/skeletal dysplasia: disorders with generalized abnormalities of the skeleton

Dystoses: disorders that have a singe or group of abnormal bones

Question 2

Inheritance

Answer 2

AD, AR, x-linked, imprinting errors, somatic mosaicism or teratogen caused.

Question 3

Homozygosity or compound heterozygosity can cause what sort of complication

Answer 3

lethality in many cases results from the inheritance of two mutations that cause skeletal dysplasias. This is usually, though not always, due to pulmonary insufficiency resulting from small chest circumference or concomitant visceral abnormalities.

Question 4

ultrasound in prenatal diagnosis

Answer 4

long bones