Question

Sonographic findings of severe micromelia, decreased or absent ossification of the spine, macrocephaly, and micrognathia describe which one of the following conditions?
a. Achondrogenesis
b. Achondroplasia
c. Osteogenesis imperfecta
d. Diastrophic dysplasia

Answer 1

Answer: Option A.

Achondrogenesis

Explanation:

Sonographic findings of severe micromelia, decreased or absent ossification of the spine, macrocephaly, and micrognathia are conditions of Achondrogenesis because

Achondrogenesis is a genetic disorder that is as a result of mutations in gene SLC26A2 which is responsible for cellular transport proteins that is needed for the growth and development of bones and cartilage. This condition lead to malformation of bones and cartilage and it is characterized by short limbs, small body, narrow chest ,prominent abdomen,underdeveloped lungs,lack of ossification in the spine and pelvis, prominent head, small chin e.t.c.

It is a condition that affects infants.

The major treatment is pallative care in which the doctor have to reduce pain stress of bones and cartilage and also genetic councellling.