Dr.V.Ravimohan,MS,MRCOG

Information on obstetrics and Gynaecology.A good resource for MRCOG exam.

Achondroplasia

This is the most common non lethal skeletal dysplasia.

The clinical characteristics are: short stature (proximal shortening of limbs), large head, and hypoplastic mid face.

Large head with frontal bossing is a common feature but hydrocephalus can also occur. ( 1)

Patients with achondroplasia usually have normal I.Q < (2) .

Mode of inheritance is autosomal dominant.

Prenatal testing


high risk pregnancy-This is where one or both parents having achondroplasia. It can be done by analysing the cells from chorionic villus sampling or amniocentesis.

 

The objective is to identify the fatal homozygous (both genes are defective) achondroplasia from heterozygous (one gene is defective).

low risk pregnancy: ultrasound done at 22 weeks may detect short fetal limbs. (
3)

Achondroplasia is also associated with
polyhydramnios . (4)

 

Useful powerpoint presentations:

                                     achondroplasia

                                     achondroplasia

 

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