fetal skeletal anomaly

update to the previous case fetal skeletal anomaly

(Edited)

2 Likes

LikeAnswersShare

It should b discussed properly with parents. Counselling for mtp can b done . Good case for discussion . Achondraplasia is a autosomal dominant disorder . They are born to parents of average height .due to mutation in the FGFR gene . Single gene responsible for it . Incidence 1 to 15000 to 35000. Though compatible with life they suffer from lordosis bowed legs breathing difficulties low self steem dwarfism .

Thank you doctor
0

Parents history of heights Genotypes studies if any Age of parents if any other kid Abort will best option if thanotrophic dysplasia Other achondrophlasia is ok Rule to abort before 24 weeks Differential diagnosis in 2 nd or 3 rd trimester

I agree
0

View 1 other reply

As the the report of anomaly scan Shows Thanatophoric dysplasia / achondroplasua - A Legal termination pregnancy should be considered

I agree
0

So case of achondroplasia dwarfism MTP should be done

I agree
0

View 2 other replies

Diseases Related to Discussion