2005, Number 2
Rev Med Hosp Gen Mex 2005; 68 (2)
Anda AP, Durán PMA
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ABSTRACTThis female newborn after 38 weeks gestation, suffered from bradycardia and died after 20 minutes of respiratory insufficiency. She had short limbs without polydactyly, proptosis, low implantation of the ears, hypertelorism, flattened nose, narrow thorax and prominent abdomen. Radiologically there was greatly diminished ossification of the axial and appendicular skeleton, with significant shortening of the bones of the lower extremities and the long bones were not incurved. Histologically there was abnormal ossification: the chondrocytes were increased in number and in the chondroid matrix there were vascular channels. Immunohistochemical markers demonstrated apoptosis in the chondrocytes and those of cellular proliferation were decreased.