Spectrum of severe skeletal dysplasias in North India.

OBJECTIVE

Severe skeletal dysplasias are a group of bone growth disorders characterized by a lethal outcome in utero or infancy. We describe our experience of the severe skeletal dysplasias diagnosed amongst fetal autopsies done at a tertiary level centre over a five year period.

METHODS

We evaluated 15 cases with short limbed dwarfism, of which 13 fetuses were examined after termination of pregnancy and two were evaluated postnatally.

RESULTS

Short rib dysplasia syndromes with or without polydactyly, osteogenesis imperfecta type II, thanatophoric dysplasia, campomelic dysplasia, chondrodysplasia punctata, rhizomelic type and achondrogenesis were the lethal skeletal dysplasias diagnosed.

CONCLUSION

Precise identification of the tye of skeletal dysplasia is paramount for proper genetic counseling. Postnatal examination and detailed radiographic examination of the fetus especially of the pelvis, limbs, skull and spine are essential to identify the type of skeletal dysplasia.