Case: Antenatal Achondroplasia

Case Report

22wk gestation previous child normal, USG report

Description

Repeat usg done at 27 weeeks Similar finding. Short femur-Differntial -IUGR , aneuploidy,skeletal dysplasia,normal variations. Mildly short femur with short humerus(more specific) with other soft signs point towards aneuploidy.Evaluation of other tubular bones and foot length is important for evaluation of detail dysplasia. Many of the times achondroplasia are mis-diagnosed ante natally as hydrocephalus Antenatal clue was Large head without hydrocephalus and short limbs! Most of achondroplasia would have large head macrocephaly without hydrocephalus. Its being extra axial collection of CSF Second presentation is altanto axial dislocation due to weak ligament of Cranio vertebral junction and relatively large head Third is medullary compression due to posterior rim of foramen Magnum presenting as stridor and quadriparesis Fourth is If child survives upto teenage the spinal canal stenosis

Moral of the Story

1.Purpose of sharing the case is not to take any finding lightly. 2.Antenatal clue was Large head without hydrocephalus and short limbs!

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